PTBP1 NM_002819.5(PTBP1):c.41G>A (p.Arg14Gln)

CI-VAR-00395925Explore in graph →p.Arg14GlnNM_002819.5:c.41G>AClinVar 4446973

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
4446973	Pathogenic	criteria provided, single submitter	1	Squamous cell carcinoma of the head and neck; PTBP1-related neurodevelopmental disorder with skeletal dysplasia	germline	2	Sep 01, 2025	clinvar