ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1584G>A (p.Met528Ile) (rs727503265)

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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 RCV000151288 SCV000199220 likely pathogenic Primary dilated cardiomyopathy 2015-01-29 criteria provided, single submitter clinical testing The p.Met528Ile variant in MYH7 has been previously identified by our laboratory in an infant with DCM. Parental testing indicated that it likely occurred de no vo. This variant was absent from large population studies. Computational predict ion tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, although additional studies are required to fully establish its clinical significance, the p.Met528Ile variant is likely pathogenic based on its de novo occurrence.

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