ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2053-1G>C (rs1596842934)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826093 SCV000967595 likely pathogenic Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies 2018-07-03 criteria provided, single submitter clinical testing The c.2053-1G>C variant in ABCA3 has not been previously reported in individuals /any other families with lung disease and was absent from large population studi es. This variant occurs in the invariant region (+/- 1,2) of the splice consensu s sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. In summary, although additional studies are required to fully es tablish its clinical significance, the c.2053-1G>C variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1_Strong, PM2.

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