ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys) (rs200858130)

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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 RCV000602013 SCV000711286 uncertain significance not specified 2016-07-13 criteria provided, single submitter clinical testing The p.Arg494Cys variant in CCDC40 has not been previously reported in individual s with pulmonary disease, but has been identified in 1/65244 European chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs200858130). 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.Arg494Cys variant is uncertain.

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