Submissions for variant NM_001927.4(DES):c.1375G>A (p.Val459Ile)

gnomAD frequency: 0.00981  dbSNP: rs73991549

Total submissions: 22

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172744	SCV000055128	benign	Primary dilated cardiomyopathy	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037232	SCV000060889	benign	not specified	2012-01-24	criteria provided, single submitter	clinical testing	Val459Ile in exon 9 of DES: This variant is classified as benign based on its hi gh frequency in the general population (NHLBI Exome Sequencing Project, http://e vs.gs.washington.edu/EVS; dbSNP rs73991549).
Eurofins Ntd Llc (ga)	RCV000037232	SCV000111846	benign	not specified	2013-03-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000037232	SCV000168103	benign	not specified	2017-04-24	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	RCV001084307	SCV000287218	benign	Desmin-related myofibrillar myopathy	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037232	SCV000308536	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248138	SCV000319162	benign	Cardiovascular phenotype	2016-03-26	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	RCV001084307	SCV000427738	likely benign	Desmin-related myofibrillar myopathy	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000366607	SCV000427739	likely benign	Neurogenic scapuloperoneal syndrome, Kaeser type	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000271115	SCV000427740	likely benign	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307505	SCV000427741	likely benign	Dilated cardiomyopathy 1I	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770175	SCV000901602	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000056791	SCV001159399	benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000037232	SCV001475070	benign	not specified	2020-02-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000056791	SCV004033857	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	DES: BS1, BS2
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000056791	SCV000087904	not provided	not provided		no assertion provided	not provided
Genetic Services Laboratory, University of Chicago	RCV000037232	SCV000150951	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000056791	SCV001744775	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037232	SCV001921060	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037232	SCV001931027	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037232	SCV001959980	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037232	SCV001969285	benign	not specified		no assertion criteria provided	clinical testing