ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1875G>C (p.Leu625=) (rs35743180)

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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, Partners HealthCare Personalized Medicine RCV000037275 SCV000060932 benign not specified 2012-08-22 criteria provided, single submitter clinical testing Leu625Leu in exon 12 of DSG2: 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% (17/4102) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs35743180).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037275 SCV000333792 likely benign not specified 2015-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000037275 SCV000512865 benign not specified 2015-06-16 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.
Invitae RCV000461825 SCV000561384 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-11-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000461825 SCV001282372 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-01-13 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 RCV001190177 SCV001357609 benign Cardiomyopathy 2018-11-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037275 SCV001478675 benign not specified 2021-01-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529946 SCV001744310 likely benign not provided no assertion criteria provided clinical testing

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