ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1396G>C (p.Glu466Gln) (rs4981473)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493052 SCV000583168 likely pathogenic not provided 2019-01-03 criteria provided, single submitter clinical testing The E466Q likely pathogenic variant in the MYH7 gene has not been reported in association with an MYH7-related disorder to our knowledge. E466Q has been observed, both independently and in conjunction with additional cardiogenetic variants, in other unrelated individuals referred for cardiomyopathy genetic testing at GeneDx. This variant is not observed in large population cohorts (Lek et al., 2016). E466Q is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Furthermore, this variant is located in the myosin motor domain, a region enriched with missense variants reported in association with cardiomyopathy (Walsh et al., 2017; Kelly et al., 2018).Therefore, this variant is likely pathogenic.

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