ELAC2 NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr)

CI-VAR-00149667Explore in graph →p.His749TyrNM_018127.7:c.2245C>TClinVar 858177 rs762471494

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
858177	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Combined oxidative phosphorylation defect type 17; Prostate cancer, hereditary, 2; ELAC2-related disorder	germline	3	Jul 12, 2023	clinvar