Submissions for variant NM_001927.4(DES):c.114G>A (p.Ala38=)

dbSNP: rs368901105

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037226	SCV000060883	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Ala38Ala in Exon 01 of DES: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.6% (22/3452) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS;).
Eurofins Ntd Llc (ga)	RCV000037226	SCV000202609	benign	not specified	2016-02-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000037226	SCV000235776	benign	not specified	2014-06-26	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	RCV000464462	SCV000562354	benign	Desmin-related myofibrillar myopathy	2024-01-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171065	SCV001333735	benign	Cardiomyopathy	2018-04-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453311	SCV002617677	likely benign	Cardiovascular phenotype	2019-09-29	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.
Fulgent Genetics, Fulgent Genetics	RCV002490504	SCV002794926	likely benign	Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type	2021-08-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037226	SCV004038080	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003944905	SCV004757824	likely benign	DES-related condition	2020-02-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000037226	SCV001923873	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705670	SCV001928191	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705670	SCV001970133	likely benign	not provided		no assertion criteria provided	clinical testing