ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser)

gnomAD frequency: 0.00196  dbSNP: rs150864240
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Total submissions: 8
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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 RCV000150545 SCV000197771 likely benign not specified 2015-03-23 criteria provided, single submitter clinical testing p.Gly1028Ser in exon 15 of DSG2: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (72/9808) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs150864240).
GeneDx RCV001704079 SCV000233471 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Invitae RCV000234244 SCV000287239 benign Arrhythmogenic right ventricular dysplasia 10 2024-01-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769520 SCV000900915 benign Cardiomyopathy 2023-05-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769520 SCV000913788 benign Cardiomyopathy 2018-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319444 SCV002608715 likely benign Cardiovascular phenotype 2018-05-02 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.
Clinical Genetics, Academic Medical Center RCV000150545 SCV001917675 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001704079 SCV001964591 likely benign not provided no assertion criteria provided clinical testing

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