PIK3CA NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)

CI-VAR-00055762Explore in graph →p.Val344MetNM_006218.4:c.1030G>AClinVar 376498 rs1057519942

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
376498	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Cowden syndrome; Cowden syndrome 5; Intestinal duplication; Diaphragmatic eventration; Megalencephaly, autosomal dominant; Hypertelorism; Abnormality of the hairline; PIK3CA related overgrowth syndrome; Inborn genetic diseases; PIK3CA constitutional syndrome; PIK3CA-related disorder	germline	11	Mar 28, 2026	clinvar