TSC1 NM_000368.5(TSC1):c.1047A>G (p.Pro349=)

CI-VAR-00008783Explore in graph →p.Pro349=NM_000368.5:c.1047A>GClinVar 48736 rs118203492

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
48736	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Tuberous sclerosis syndrome; Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome; Isolated focal cortical dysplasia type II	germline	13	Jan 26, 2026	clinvar