rs137852695
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)
- Neuronal ceroid lipofuscinosis 1 (CLN1)Pathogenic · ★★ · germline
- Inborn genetic diseasesPathogenic · ★ · germline
- Neuronal ceroid lipofuscinosisPathogenic · germline
- not providedPathogenic · ★★ · germline
gnomAD allele frequency 1.18e-3
rs137852695 is a genetic variant located in the PPT1 gene. dbsnp · gene
In gnomAD, rs137852695 has an overall allele frequency of 0.12%. gnomad · frequency
In ClinVar, rs137852695 is classified as Pathogenic for Neuronal ceroid lipofuscinosis 1 (CLN1) (2 review stars, germline; last evaluated 2025-02-19). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs137852695 is classified as Pathogenic for Inborn genetic diseases (1 review star, germline; last evaluated 2016-05-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs137852695 is classified as Pathogenic for Neuronal ceroid lipofuscinosis (0 review stars, germline; last evaluated 2011-07-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs137852695 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2022-07-07). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 26e8cc70e6c856dd · 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.