Submissions for variant NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)

gnomAD frequency: 0.00037  dbSNP: rs184154918

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154711	SCV000204391	benign	not specified	2014-11-06	criteria provided, single submitter	clinical testing	p.Arg1308Gln in exon 23 of DSP: This variant is not expected to have clinical si gnificance because it has been identified in 1.5% (6/394) of Han Chinese chromos omes by the 1000 Genomes Project (dbSNP rs184154918) and in 1.7% (145/8730) of E ast Asian chromosomes by the Exome Aggregation Consortium (ExAC; http://exac.bro adinstitute.org).
PreventionGenetics, part of Exact Sciences	RCV000154711	SCV000310358	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000297493	SCV000465010	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000354640	SCV000465011	likely benign	Epidermolysis bullosa simplex due to plakophilin deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262391	SCV000465012	likely benign	Woolly hair-skin fragility syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000301232	SCV000465013	likely benign	Lethal acantholytic epidermolysis bullosa	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085944	SCV000555749	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2025-02-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586281	SCV000698434	benign	not provided	2017-08-22	criteria provided, single submitter	clinical testing	Variant summary: The c.3923G>A (p.Arg1308Gln) in the DSP gene is a missense change that involves the alteration of a non- conserved nucleotide and 5/5 in silico tools predict benign outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.001212 (146/ 120504 chrs tested), predominantly in individuals of East Asian descent (0.01648; 142/ 8618 chrs, including 1 homozygotes). The latter frequency exceeds the maximal expected allele frequency for a pathogenic variant in this gene (0.00001). Lastly, several reputable databases/diagnostic centers classified the variant of interest as Benign/Likely Benign. Taking together, the variant was classified as Benign.
Ambry Genetics	RCV000619090	SCV000735375	benign	Cardiovascular phenotype	2016-05-23	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000154711	SCV000747969	benign	not specified	2017-06-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771364	SCV000903659	benign	Cardiomyopathy	2018-03-08	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852993	SCV000995743	benign	Cardiomyopathy; Hypertrophic cardiomyopathy	2017-07-06	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771364	SCV001333770	benign	Cardiomyopathy	2017-11-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000586281	SCV001866691	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26585738)
CeGaT Center for Human Genetics Tuebingen	RCV000586281	SCV004163052	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	DSP: BP4, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000586281	SCV001740905	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000586281	SCV001797614	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154711	SCV001922653	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000154711	SCV001953505	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000154711	SCV001973667	benign	not specified		no assertion criteria provided	clinical testing