ABCA3 NM_001089.3(ABCA3):c.2994C>T (p.Arg998=)

CI-VAR-00053410Explore in graph →p.Arg998=NM_001089.3:c.2994C>TClinVar 318430 rs748766458

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
318430	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Interstitial lung disease due to ABCA3 deficiency; Colon adenocarcinoma; Lung cancer; Hereditary pulmonary alveolar proteinosis	germline	5	Jan 18, 2026	clinvar