ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.348A>G (p.Gln116=)

gnomAD frequency: 0.00021  dbSNP: rs137941742
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150526 SCV000197730 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Gln116Gln in exon 3 of DSC2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 3/7016 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs137941742).
Ambry Genetics RCV000247614 SCV000318804 likely benign Cardiovascular phenotype 2017-04-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000460259 SCV000561709 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-12-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769502 SCV000900897 likely benign Cardiomyopathy 2021-05-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769502 SCV000913798 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531281 SCV001746309 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing DSC2: BP4, BP7
GeneDx RCV001531281 SCV001948772 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000150526 SCV001920696 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001531281 SCV001959275 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001531281 SCV001968250 likely benign not provided no assertion criteria provided clinical testing

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