AARS1 NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)

CI-VAR-00182011Explore in graph →p.Asn657AspNM_001605.3:c.1969A>GClinVar 1061777 rs749039663

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
1061777	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Charcot-Marie-Tooth disease type 2; Developmental and epileptic encephalopathy, 29; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive; Charcot-Marie-Tooth disease axonal type 2N	germline	3	Jan 12, 2026	clinvar