ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2140C>T (p.Arg714Cys) (rs867072001)

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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 RCV000613309 SCV000731574 uncertain significance not specified 2017-04-10 criteria provided, single submitter clinical testing The p.Arg714Cys variant in ABCA3 has not been previously reported in individuals with pulmonary disease, but has been identified in 3/111682 European chromosome s by the genome Aggregation Database (gnomAD,; dbSNP rs867072001). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg714Cys variant is uncertain.

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