ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2546T>C (p.Met849Thr) (rs397516156)

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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 RCV000788450 SCV000927569 likely pathogenic not provided 2018-03-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035803 SCV000059454 likely pathogenic Hypertrophic cardiomyopathy 2015-04-01 criteria provided, single submitter clinical testing The p.Met849Thr variant in MYH7 has been reported in 1 individual with end-stage HCM (Garcia-Pavia) and was identified by our laboratory as a de novo occurrence in 1 Caucasian adult with HCM. This variant was absent from large population st udies. Methionine (Met) at position 849 is not well conserved in evolution; howe ver the change to threonine (Thr) was predicted to be pathogenic using a computa tional tool clinically validated by our laboratory. This tool's pathogenic predi ction is estimated to be correct 94% of the time (Jordan 2011). In summary, alth ough additional studies are required to fully establish its clinical significanc e, the p.Met849Thr variant is likely pathogenic.

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