ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3352G>A (p.Glu1118Lys)

dbSNP: rs750174797
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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 RCV002544338 SCV003498179 uncertain significance Hypertrophic cardiomyopathy 14 2023-05-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1118 of the MYH6 protein (p.Glu1118Lys). This variant is present in population databases (rs750174797, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1328497). 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 not expected to disrupt MYH6 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.
Ambry Genetics RCV004988748 SCV005451652 uncertain significance Cardiovascular phenotype 2024-08-07 criteria provided, single submitter clinical testing The p.E1118K variant (also known as c.3352G>A), located in coding exon 24 of the MYH6 gene, results from a G to A substitution at nucleotide position 3352. The glutamic acid at codon 1118 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001796941 SCV002037395 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796941 SCV002038436 uncertain significance not provided no assertion criteria provided clinical testing

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