NDUFAF5 NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)

CI-VAR-00048253Explore in graph →p.Lys109AsnNM_024120.5:c.327G>CClinVar 265061 rs150613320

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
265061	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Inborn genetic diseases; Mitochondrial complex I deficiency; Mitochondrial complex I deficiency, nuclear type 16; Mitochondrial complex I deficiency, nuclear type 1; NDUFAF5-related disorder; Sarcoma; Leigh syndrome; Uterine carcinosarcoma; NDUFAF5-related disorders	germline	15	Jan 26, 2026	clinvar