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
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.
Blueprint Genetics RCV000788450 SCV000927569 likely pathogenic not provided 2018-03-06 criteria provided, single submitter clinical testing

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