Submissions for variant NM_001927.4(DES):c.324G>A (p.Glu108=)

gnomAD frequency: 0.00189  dbSNP: rs138677215

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000154551	SCV000168104	benign	not specified	2015-03-17	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154551	SCV000204224	benign	not specified	2010-12-17	criteria provided, single submitter	clinical testing	Glu108Glu in Exon 01 of DES: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence and has been identified in 0.5% (20/3706) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs138677215).
Eurofins Ntd Llc (ga)	RCV000154551	SCV000224365	benign	not specified	2014-12-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226557	SCV000287222	benign	Desmin-related myofibrillar myopathy	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000154551	SCV000308537	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250330	SCV000320422	likely benign	Cardiovascular phenotype	2015-11-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529031	SCV001159645	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154551	SCV002548219	benign	not specified	2022-05-07	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529031	SCV001741797	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154551	SCV001918123	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529031	SCV001964294	likely benign	not provided		no assertion criteria provided	clinical testing