GYG1 NM_004130.4(GYG1):c.304G>C (p.Asp102His)

CI-VAR-00025707Explore in graph →p.Asp102HisNM_004130.4:c.304G>CClinVar 162663 rs143137713

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
162663	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Polyglucosan body myopathy type 2; Glycogen storage disease XV; GYG1-related disorder; Glycogen storage disease; Sarcoma; Acute rhabdomyolysis; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Melanoma; Familial cancer of breast; GYG1-related disorders	germline	22	Feb 01, 2026	clinvar