ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)

gnomAD frequency: 0.00007  dbSNP: rs750349613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208075 SCV000263834 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-12-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213162 SCV000271661 uncertain significance not specified 2015-04-06 criteria provided, single submitter clinical testing The p.Gly1298Arg variant in DMD has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/86977 total chromosomes (4 hem izygotes) by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org). Glycine (Gly) at position 1298 is not highly conserved in mammals or evolu tionarily distant species and the Chinese hamster carries an arginine (Arg), rai sing the possibility that this change may be tolerated. Additional computational prediction tools suggest that the p.Gly1298Arg variant may not impact the prote in, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Gly1298Arg variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513398 SCV001721012 benign Duchenne muscular dystrophy 2024-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354585 SCV002619886 likely benign Cardiovascular phenotype 2021-10-14 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.

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