SACS NM_014363.6(SACS):c.2983G>T (p.Val995Phe)

CI-VAR-00034681Explore in graph →p.Val995PheNM_014363.6:c.2983G>TClinVar 218707 rs142967124

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
218707	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Spastic paraplegia; Charlevoix-Saguenay spastic ataxia; Hereditary spastic paraplegia; Lung cancer; Cervical cancer; Familial cancer of breast; Clear cell carcinoma of kidney; Cholangiocarcinoma; Ovarian serous cystadenocarcinoma; Acute myeloid leukemia	germline	15	May 01, 2026	clinvar