ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.739T>C (p.Phe247Leu) (rs727503276)

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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 RCV000599626 SCV000199262 likely pathogenic Hypertrophic cardiomyopathy 2016-12-02 criteria provided, single submitter clinical testing The p.Phe247Leu variant in MYH7 has been reported in 5 individuals with HCM and segregated with disease in 5 affected relatives from 2 families, including 2 aff ected obligate carriers (Garcia-Castro 2009, Coto 2012, LMM data). This variant was absent from large population studies. Phenylalanine (Phe) at position 247 is highly conserved in mammals and across evolutionarily distant species and the c hange to leucine (Leu) was predicted to be pathogenic using a computational tool clinically validated by our laboratory. This tool's pathogenic prediction is es timated to be correct 94% of the time (Jordan 2011). In summary, although additi onal studies are required to fully establish its clinical significance, the p.Ph e247Leu variant is likely pathogenic.

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