ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2643C>T (p.Thr881=)

gnomAD frequency: 0.00010  dbSNP: rs180695545
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Total submissions: 12
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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 RCV000037290 SCV000060947 likely benign not specified 2013-02-01 criteria provided, single submitter clinical testing Thr881Thr in exon 15 of DSG2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/3734 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.ed/EVS/; dbSNP rs180695545). Thr881Thr in exon 15 of D SG2 (rs180695545; allele frequency = 1/3734) **
GeneDx RCV000037290 SCV000168246 benign not specified 2014-07-22 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 RCV000468913 SCV000561379 benign Arrhythmogenic right ventricular dysplasia 10 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620707 SCV000736243 likely benign Cardiovascular phenotype 2016-06-24 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769517 SCV000900912 likely benign Cardiomyopathy 2017-09-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769517 SCV000903683 benign Cardiomyopathy 2018-05-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000468913 SCV001284704 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2018-02-02 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037290 SCV004029353 likely benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037290 SCV001920248 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001705671 SCV001928482 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001705671 SCV001957361 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001705671 SCV001974423 likely benign not provided no assertion criteria provided clinical testing

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