POT1 NM_015450.3(POT1):c.1416T>G (p.Ser472Arg)

CI-VAR-00074767Explore in graph →p.Ser472ArgNM_015450.3:c.1416T>GClinVar 475044 rs146643991

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
475044	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Cerebroretinal microangiopathy with calcifications and cysts 3	germline	9	Aug 05, 2025	clinvar