CASR NM_000388.4(CASR):c.2449G>A (p.Val817Ile)

CI-VAR-00055514Explore in graph →p.Val817IleNM_000388.4:c.2449G>AClinVar 374153 rs1057518933

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
374153	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hypocalciuria; Hypertrophic cardiomyopathy; Parathyroid gland adenoma; Hypercalcemia; Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Familial hypocalciuric hypercalcemia 1; CASR-related disorder	germline	7	Oct 23, 2025	clinvar