ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) (rs370509593)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171901 SCV000054848 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155790 SCV000205501 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing p.Asp435Asn in exon 10 of DSG2: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (101/14182) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs370509593).
GeneDx RCV000171901 SCV000233496 benign not provided 2019-03-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21606396)
Invitae RCV001087023 SCV000641962 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-10-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770551 SCV000901999 uncertain significance Cardiomyopathy 2016-02-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001087023 SCV001284601 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Color Health, Inc RCV000770551 SCV001357600 benign Cardiomyopathy 2018-11-11 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000171901 SCV000280081 likely benign not provided 2017-07-25 no assertion criteria provided provider interpretation Reclassified by our group an testing lab from VUS to Likely Benign based on 0.7% MAF in South Asians in gnomAD. It is present in 205 individuals in that database (195 of them with South Asian ancestry), including 4 homozygotes.
Human Genetics - Radboudumc,Radboudumc RCV000171901 SCV001954260 likely benign not provided no assertion criteria provided clinical testing

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