ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) (rs727503249)

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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 RCV000151246 SCV000199137 likely pathogenic Left ventricular noncompaction 2014-04-09 criteria provided, single submitter clinical testing The Arg1250Trp variant in MYH7 has been reported in 1 African American adult wit h LVNC and segregated with disease in 3 affected relatives (Dellefave 2009, LMM unpublished). It was absent from large population studies. Arginine (Arg) at pos ition 1250 is highly conserved in evolution and the change to tryptophan (Trp) w as predicted to be pathogenic using a computational tool clinically validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94 % of the time (Jordan 2011). In summary, although additional studies are require d to fully establish its clinical significance, the Arg1250Trp variant is likely pathogenic.

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