ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1426C>G (p.Leu476Val)

dbSNP: rs397516107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035725 SCV000059376 uncertain significance not specified 2019-03-13 criteria provided, single submitter clinical testing The p.Leu476Val variant in MYH7 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Of note, this variant lies in the head region of the protein. Missense variants in this region have been reported and statistically indicated to be more likely to cause disease (Walsh 2016). In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM1, PM2.
GeneDx RCV001775550 SCV002013761 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing Reported in one patient in association with HCM (Walsh et al., 2017); Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 42845; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27532257)

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