Submissions for variant NM_004415.4(DSP):c.2631G>A (p.Arg877=)

gnomAD frequency: 0.74603  dbSNP: rs1016835

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038011	SCV000061677	benign	not specified	2011-07-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038011	SCV000310351	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250214	SCV000317614	benign	Cardiovascular phenotype	2015-03-09	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000292946	SCV000464938	benign	Woolly hair-skin fragility syndrome	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000352543	SCV000464939	benign	Lethal acantholytic epidermolysis bullosa	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000388191	SCV000464940	benign	Arrhythmogenic right ventricular dysplasia 8	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color Diagnostics, LLC DBA Color Health	RCV000775975	SCV000910496	benign	Cardiomyopathy	2018-03-09	criteria provided, single submitter	clinical testing
Invitae	RCV001519752	SCV001728677	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001610330	SCV001835225	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659966	SCV001875733	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659967	SCV001875735	benign	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000352543	SCV001875736	benign	Lethal acantholytic epidermolysis bullosa	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659965	SCV001875737	benign	Keratosis palmoplantaris striata 2	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000292946	SCV001875738	benign	Woolly hair-skin fragility syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000038011	SCV001742027	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038011	SCV001917447	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038011	SCV001931852	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038011	SCV001959954	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000775975	SCV003802966	benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing