CACNA1S NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe)

CI-VAR-00221959Explore in graph →p.Val375PheNM_000069.3:c.1123G>TClinVar 1431416 rs1174671318

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
1431416	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18	germline	5	Aug 21, 2024	clinvar