ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.3892G>A (p.Gly1298Arg) (rs750349613)

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Total submissions: 2
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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, Partners HealthCare 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.

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