ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys)

dbSNP: rs397516122
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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 RCV000035748 SCV000059399 likely pathogenic Primary dilated cardiomyopathy 2018-04-25 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Blueprint Genetics RCV000788457 SCV000927580 likely pathogenic not provided 2018-03-08 criteria provided, single submitter clinical testing
Invitae RCV003586136 SCV004296284 uncertain significance Hypertrophic cardiomyopathy 2023-03-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 597 of the MYH7 protein (p.Asn597Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 24503780, 31931689; Invitae). ClinVar contains an entry for this variant (Variation ID: 42866). 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. 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.

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