ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2282C>A (p.Thr761Asn) (rs1555337846)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658145 SCV000779916 likely pathogenic not provided 2018-05-15 criteria provided, single submitter clinical testing A variant that is likely pathogenic was identified in the MYH7 gene. The T761N variant has been reported in one patient with HCM (Ntusi et al., 2016); however, detailed clinical information was not provided. This variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. While the T761N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, it is located in the myosin motor domain, a region enriched with missense variants reported in association with HCM (Walsh et al., 2017; Kelly et al., 2018). In summary, T761N in the MYH7 gene is interpreted as a likely pathogenic variant.

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