ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.1108C>T (p.Arg370Trp) (rs753444140)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485434 SCV000565964 likely pathogenic not provided 2015-03-24 criteria provided, single submitter clinical testing The R370W variant in the MYH6 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The R370W variant was not observed in approximately 6500 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 R370W variant is a non-conservative amino acid substitution which occurs at a position within the myosin motor domain that is conserved across species. In silico analysis predicts that this variant is probably damaging to the protein structure/function. The R370W variant is a strong candidate for a disease-causing variant . However, the possibility that it may be a rare benign variant cannot be excluded
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000615081 SCV000712204 uncertain significance not specified 2016-06-13 criteria provided, single submitter clinical testing The p.Arg370Trp variant in MYH6 has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/16510 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP 753444140). Computational prediction tools and conservation analysis suggest th at the p.Arg370Trp variant may impact the protein, though this information is no t predictive enough to determine pathogenicity. In summary, the clinical signifi cance of the p.Arg370Trp variant is uncertain.

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