ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs) (rs775903641)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000758240 SCV000886878 pathogenic Surfactant metabolism dysfunction, pulmonary, 3 2019-02-04 criteria provided, single submitter clinical testing This ABCA3 variant (rs775903641) is rare in large population datasets (gnomAD: 1/250896 total alleles; 0.0004%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. This frameshift variant results in a premature stop codon in exon 11 likely leading to nonsense-mediated decay and lack of protein production. This variant is considered pathogenic.

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