ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2527G>A (p.Ala843Thr) (rs727505132)

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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 RCV000156591 SCV000206310 likely pathogenic Hypertrophic cardiomyopathy 2014-07-01 criteria provided, single submitter clinical testing The p.Ala843Thr variant in MYH7 has been identified by our laboratory as a de no vo occurrence in 1 infant with DCM. It was absent from large population studies . Alanine (Ala) at position 843 is highly conserved in evolution and the change to threonine (Thr) was predicted to be pathogenic using a computational tool cl inically validated by our laboratory. This tool's pathogenic prediction is estim ated to be correct 94% of the time (Jordan 2011). In summary, although addition al studies are required to fully establish its clinical significance, this varia nt is likely pathogenic.

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