ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.1235A>G (p.Asp412Gly) (rs767444514)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219072 SCV000272163 uncertain significance not specified 2015-07-07 criteria provided, single submitter clinical testing The p.Asp412Gly variant in MYOM1 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/64312 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s767444514). Aspartic acid (Asp) at position 412 is not highly conserved in mamm als or evolutionarily distant species and 15 reptile and fish species carry a gl ycine (Gly) at this position, raising the possibility that this change may be to lerated. However, in silico models suggest this variant may impact splicing, but this information is not predictive enough to determine pathogenicity. In summar y, the clinical significance of the p.Asp412Gly variant is uncertain.

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