ATP7A NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp)

CI-VAR-00058345Explore in graph →p.Arg512TrpNM_000052.7:c.1534C>TClinVar 389280 rs1030215501

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
389280	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Ehlers-Danlos syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Melanoma	germline	4	Jan 15, 2026	clinvar