ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2655T>A (p.Asn885Lys)

gnomAD frequency: 0.00001  dbSNP: rs863225095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201496 SCV000256130 likely pathogenic Hypertrophic cardiomyopathy 1 criteria provided, single submitter clinical testing
Invitae RCV001297501 SCV001486521 uncertain significance Hypertrophic cardiomyopathy 2022-10-24 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 217462). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 24093860, 27247418). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 885 of the MYH7 protein (p.Asn885Lys).

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