ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.172T>G (p.Phe58Val) (rs138749562)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725685 SCV000338592 uncertain significance not provided 2016-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000150527 SCV000512857 likely benign not specified 2017-10-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000456649 SCV000561706 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-12-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150527 SCV000197734 uncertain significance not specified 2014-07-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Phe58Val varian t in DSC2 has been reported in 1 individual with DCM (Elliot 2010) and in 1/1254 control chromosomes (Kapplinger 2011). This variant has also been identified in 0.16% (7/4406) of African American chromosomes by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS/; dbSNP rs138749562). Phenylalanine (Phe ) at position 58 is not conserved in evolution and 2 mammals (rabbit, pika) carr y a valine (Val) at this position, suggesting that this change may be tolerated. In summary, while the clinical significance of the Phe58Val variant is uncertai n, these data suggest that it is more likely to be benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000150527 SCV000747971 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing

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