ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.3977C>A (p.Thr1326Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Alder lab, University of Pittsburgh RCV002284284 SCV002573686 uncertain significance Interstitial lung disease 2 2022-08-01 criteria provided, single submitter research
Ambry Genetics RCV003164423 SCV003857213 likely benign Hereditary pulmonary alveolar proteinosis 2023-03-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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