ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) (rs200802591)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000608268 SCV000744768 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608268 SCV000733779 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000608268 SCV000743497 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-01-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039443 SCV000063127 uncertain significance not specified 2010-12-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Pro289Ser v ariant has been reported in one individual with possible ARVD/C and was absent f rom 300 ethnically matched control chromosomes (Bhuiyan 2009). Proline (Pro) at position 289 is conserved across in mammals (more distant species were not avail able. In addition, three computer programs (AlignGCGD, PolyPhen, SIFT) predict t he variant to significantly affect the protein?s function. While the absence fro m controls and the limited evolutionary conservation data available support a pa thogenic role, the number of controls tested is not high enough to exclude that the variant is benign. In summary, the significance of the Pro289Ser variant c annot be determined without additional studies.

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