ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2737A>C (p.Asn913His)

dbSNP: rs2138599127
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002048964 SCV002311809 uncertain significance Hypertrophic cardiomyopathy 14 2021-08-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 913 of the MYH6 protein (p.Asn913His). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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