← Genclarus

rs76763715

NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)

GBAmissense variantp.Asn409Sersingle nucleotide variant
ClinVar by condition
  • Parkinson disease, late-onset (PD)Pathogenic · ★★ · germline
  • Gaucher diseasePathogenic · ★★ · germline
  • Gaucher disease perinatal lethalPathogenic · ★★ · unknown
  • Gaucher disease type I (GD1)Likely pathogenic · ★★ · germline
  • Lewy body dementia (DLB)Pathogenic · ★ · germline
  • Lewy body dementia (DLB)Pathogenic · ★ · unknown
  • Gaucher disease type I (GD1)Pathogenic · ★ · unknown
  • Gaucher disease type II (GD2)Pathogenic · ★ · unknown
  • Gaucher disease type IIIPathogenic · ★ · unknown
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromePathogenic · ★ · unknown
  • Parkinson disease, late-onset (PD)Pathogenic · ★ · unknown
  • Gaucher disease type I (GD1)Pathogenic · ★ · germline

gnomAD allele frequency 1.63e-3

In gnomAD, rs76763715 has an overall allele frequency of 0.16%. gnomad · frequency

In ClinVar, rs76763715 is classified as Pathogenic for Parkinson disease, late-onset (PD) (2 review stars, germline; last evaluated 2024-08-27). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for Gaucher disease (2 review stars, germline; last evaluated 2023-08-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for Gaucher disease perinatal lethal (2 review stars; last evaluated 2019-03-04). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs76763715 is classified as Likely pathogenic for Gaucher disease type I (GD1) (2 review stars, germline; last evaluated 2024-10-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for Lewy body dementia (DLB) (1 review star, germline; last evaluated 2022-05-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for Lewy body dementia (DLB) (1 review star; last evaluated 2022-02-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for Gaucher disease type I (GD1) (1 review star; last evaluated 2022-02-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for Gaucher disease type II (GD2) (1 review star; last evaluated 2022-02-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for Gaucher disease type III (1 review star; last evaluated 2022-02-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome (1 review star; last evaluated 2022-02-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for Parkinson disease, late-onset (PD) (1 review star; last evaluated 2022-02-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for Gaucher disease type I (GD1) (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs76763715 is classified as Pathogenic for Gaucher disease type II (GD2) (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs76763715 is classified as Pathogenic for Gaucher disease type III (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs76763715 is classified as Pathogenic for Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs76763715 is classified as Likely pathogenic for Lewy body dementia (DLB) (1 review star, germline; last evaluated 2023-11-08). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Likely pathogenic for Parkinson disease, late-onset (PD) (1 review star, germline; last evaluated 2023-11-08). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Likely pathogenic for Rigidity (1 review star; last evaluated 2014-02-19). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs76763715 is classified as Likely pathogenic for Akinesia (1 review star; last evaluated 2014-02-19). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs76763715 is classified as Risk factor for Parkinson disease (PD) (1 review star, germline; last evaluated 2020-04-14). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for GBA1-related disorder (0 review stars, germline; last evaluated 2024-02-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Risk factor for Dementia, Lewy body, susceptibility to (0 review stars, germline; last evaluated 2010-08-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Uncertain significance for Abnormal bleeding (0 review stars, germline; last evaluated 2020-05-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Uncertain significance for Thrombocytopenia (0 review stars, germline; last evaluated 2020-05-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2025-03-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs76763715 is classified as Pathogenic for not specified (1 review star, germline; last evaluated 2024-06-27). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

Sources

retrieved 2026-08-03 · facts 655be70616f4dcde · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0

Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.