ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2643C>T (p.Thr881=) (rs180695545)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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 cardiomyopathy, type 10 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620707 SCV000736243 likely benign Cardiovascular phenotype 2016-06-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
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 Health, Inc RCV000769517 SCV000903683 benign Cardiomyopathy 2018-05-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000468913 SCV001284704 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 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.

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