ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1791A>T (p.Lys597Asn)

gnomAD frequency: 0.00001  dbSNP: rs1252826013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210729 SCV001382230 uncertain significance Hypertrophic cardiomyopathy 14 2019-08-01 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 597 of the MYH6 protein (p.Lys597Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine.
GeneDx RCV002464411 SCV002759276 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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
Fulgent Genetics, Fulgent Genetics RCV002484144 SCV002791491 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538453 SCV004738464 uncertain significance MYH6-related disorder 2024-02-07 no assertion criteria provided clinical testing The MYH6 c.1791A>T variant is predicted to result in the amino acid substitution p.Lys597Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) 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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