ClinVar Miner

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

dbSNP: rs760932600
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Total submissions: 5
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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).
Invitae 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 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).

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