DHCR7 NM_001360.3(DHCR7):c.988G>A (p.Val330Met)

CI-VAR-00067448Explore in graph →p.Val330MetNM_001360.3:c.988G>AClinVar 420113 rs139724817

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
420113	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Smith-Lemli-Opitz syndrome; Hepatoblastoma; DHCR7-related disorder	germline	14	Feb 25, 2026	clinvar