AARS1 NM_001605.3(AARS1):c.1044G>C (p.Thr348=)

CI-VAR-00049679Explore in graph →p.Thr348=NM_001605.3:c.1044G>CClinVar 282997 rs181264712

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
282997	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease axonal type 2N; Inborn genetic diseases; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive; Developmental and epileptic encephalopathy, 29; AARS1-related disorder	germline	10	Feb 03, 2026	clinvar