Submissions for variant NM_024422.6(DSC2):c.2139G>A (p.Thr713=)

gnomAD frequency: 0.00006  dbSNP: rs112532429

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154698	SCV000204377	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Thr713Thr in Exon 14 of DSC2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs112532429).
GeneDx	RCV001711214	SCV000520923	likely benign	not provided	2018-07-06	criteria provided, single submitter	clinical testing
Invitae	RCV000868396	SCV001009722	benign	Arrhythmogenic right ventricular dysplasia 11	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000868396	SCV001285791	uncertain significance	Arrhythmogenic right ventricular dysplasia 11	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, 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.
Color Diagnostics, LLC DBA Color Health	RCV001186911	SCV001353523	likely benign	Cardiomyopathy	2018-11-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154698	SCV001554537	likely benign	not specified	2021-03-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426744	SCV002730059	likely benign	Cardiovascular phenotype	2020-10-29	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.