ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) (rs8095704)

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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 RCV000037298 SCV000060955 benign not specified 2013-02-22 criteria provided, single submitter clinical testing Thr1045Thr in exon 15 of DSG2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, and is not located wi thin the splice consensus sequence and has been identified in 2.3% (92/4044) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs8095704).
Invitae RCV000228156 SCV000287240 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037298 SCV000308556 benign not specified criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769521 SCV000900916 benign Cardiomyopathy 2015-12-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769521 SCV000913491 benign Cardiomyopathy 2018-10-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228156 SCV001282468 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.
GeneDx RCV001540043 SCV001757879 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029671 SCV000052323 benign Cardiac arrhythmia 2015-03-13 no assertion criteria provided clinical testing

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