Submissions for variant NM_004006.3(DMD):c.932A>G (p.Asp311Gly)

dbSNP: rs760932600

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000183405	SCV000235861	uncertain significance	not provided	2014-03-26	criteria provided, single submitter	clinical testing	p.Asp311Gly (GAC>GGC): c.932 A>G in exon 9 of the DMD gene (NM_004006.2). A variant of unknown significance has been identified in the DMD gene. To our knowledge, the D311G variant has not been published as a mutation or as a benign polymorphism. The D311G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D311G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is possibly damaging to the protein structure/function. However, no missense mutations in nearby residues have been reported in association with cardiomyopathy/DMD, suggesting this region of the protein may be tolerant to change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088868	SCV001005693	benign	Duchenne muscular dystrophy	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003165401	SCV003853660	benign	Cardiovascular phenotype	2023-01-27	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.
Athena Diagnostics	RCV000183405	SCV004229588	benign	not provided	2023-06-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537535	SCV004713955	likely benign	DMD-related disorder	2023-09-29	no assertion criteria provided	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).