PTEN c.1003C>T

CI-VAR-00416998Explore in graph →CIViC 5570

Curated evidence

Evidence by cancer (1 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.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Cowden Syndrome1unmapped disease
PTEN c.1003C>T	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID13243 Gebhart et al. reported a young woman with clinical features of Cowden syndrome who carried a heterozygous germline PTEN c.1003C>T (p.Arg335Ter) pathogenic variant. The patient initially presented wit… (full text at CIViC) PMID 40407579 · Gebhart et al., 2025 · Open in CIViC	civic

ClinVar

Clinical significance (0)

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

Data not yet available

No ClinVar interpretation attached to this variant.