rs74315329
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)
- Glaucoma of childhoodPathogenic · ★★★ · germline
- Primary open angle glaucoma (POAG)Likely pathogenic · ★ · germline
- Glaucoma 1, open angle, A (GLC1A)Conflicting interpretations · ★ · germline
- not providedLikely pathogenic · ★★ · germline
gnomAD allele frequency 1.12e-3
rs74315329 is a genetic variant located in the MYOC gene. dbsnp · gene
In gnomAD, rs74315329 has an overall allele frequency of 0.11%. gnomad · frequency
In ClinVar, rs74315329 is classified as Pathogenic for Glaucoma of childhood (3 review stars, germline; last evaluated 2022-03-05). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs74315329 is classified as Likely pathogenic for Primary open angle glaucoma (POAG) (1 review star, germline; last evaluated 2016-06-14). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs74315329 is classified as Conflicting interpretations for Glaucoma 1, open angle, A (GLC1A) (1 review star, germline; last evaluated 2023-09-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs74315329 is classified as Likely pathogenic for not provided (2 review stars, germline; last evaluated 2025-03-05). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 0077f1fabb83eb78 · 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.