ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)

dbSNP: rs763538103
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Total submissions: 6
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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 RCV000201468 SCV000256129 likely pathogenic Hypertrophic cardiomyopathy 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000554994 SCV000623729 uncertain significance Hypertrophic cardiomyopathy 2024-12-22 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 1664 of the MYH7 protein (p.Asn1664Lys). This variant is present in population databases (rs763538103, gnomAD 0.003%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 27247418). ClinVar contains an entry for this variant (Variation ID: 217461). An algorithm developed specifically for the MYH7 gene suggests that this missense change is likely to be tolerated (PMID: 21310275). 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.
Color Diagnostics, LLC DBA Color Health RCV000777755 SCV000913718 uncertain significance Cardiomyopathy 2019-04-09 criteria provided, single submitter clinical testing This missense variant replaces asparagine with lysine at codon 1664 of the MYH7 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 27247418). This variant has also been identified in 3/251434 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Mendelics RCV000201468 SCV001139407 uncertain significance Hypertrophic cardiomyopathy 1 2019-05-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133174 SCV003817668 uncertain significance not provided 2020-10-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541282 SCV004772739 uncertain significance MYH7-related disorder 2024-02-19 no assertion criteria provided clinical testing The MYH7 c.4992C>A variant is predicted to result in the amino acid substitution p.Asn1664Lys. This variant has been reported in an individual with hypertrophic cardiomyopathy (Table S1, Homburger et al. 2016. PubMed ID: 27247418). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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