ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys)

dbSNP: rs727504274
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Total submissions: 3
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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 RCV000154273 SCV000203932 likely pathogenic Hypertrophic cardiomyopathy 2014-04-04 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000158602 SCV000208537 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing Identified in patients with HCM referred for genetic testing at GeneDx and in published literature (Waldmuller et al., 2008; Walsh et al., 2017; Millat et al., 2010; Piras et al., 2019; Marschall et al., 2019; van Lint et al., 2019; Sepp et al., 2022; Lenarduzzi et al., 2023); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27532257, 20624503, 20800588, 31737537, 21310275, 36788754, 35626289, 30847666, 31424582, 18258667)
Invitae RCV000154273 SCV001217486 uncertain significance Hypertrophic cardiomyopathy 2022-09-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 177676). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (HCM) or referred for genetic testing for HCM (PMID: 18258667, 20624503, 27532257, 30847666). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1116 of the MYH7 protein (p.Glu1116Lys).

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