ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1350A>G (p.Arg450=) (rs144242114)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757177 SCV000885313 likely benign not provided 2017-05-26 criteria provided, single submitter clinical testing The p.Arg450Arg variant (rs144242114) does not alter the amino acid sequence of the DSC2 protein; however computational splice algorithms predict creation of a cryptic donor site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 1.1 percent in the Ashkenazi Jewish population (identified on 108 out of 10,142 chromosomes) and has been reported to the ClinVar database as benign (Variation ID: 36004). Based on these observations, the p.Arg450Arg variant is likely to be benign.
Color RCV000029662 SCV000902806 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000204526 SCV000744762 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000204526 SCV000733777 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 no assertion criteria provided clinical testing
GeneDx RCV000039406 SCV000233404 benign not specified 2016-02-12 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000204526 SCV000743493 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2014-10-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029662 SCV000052314 benign Cardiomyopathy 2015-10-08 no assertion criteria provided clinical testing
Invitae RCV000204526 SCV000262233 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039406 SCV000063090 benign not specified 2012-04-04 criteria provided, single submitter clinical testing Arg450Arg in Exon 10 of DSC2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.4% (26/7020) of Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs144242114).

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