ABCA3 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)

CI-VAR-00032004Explore in graph →p.Glu292ValNM_001089.3:c.875A>TClinVar 203381 rs149989682

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
203381	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Interstitial lung disease due to ABCA3 deficiency; Diffuse interstitial pulmonary fibrosis; Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies; Interstitial lung disease 2; Hereditary pulmonary alveolar proteinosis; Cervical cancer; ABCA3-related disorder; Sarcoma; Ovarian serous cystadenocarcinoma; Malignant tumor of urinary bladder	germline	28	Feb 18, 2026	clinvar