ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3541G>A (p.Glu1181Lys)

dbSNP: rs1033416176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647054 SCV000768841 uncertain significance Hypertrophic cardiomyopathy 14 2019-06-14 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 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1181 of the MYH6 protein (p.Glu1181Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Ambry Genetics RCV004025721 SCV005018933 uncertain significance Cardiovascular phenotype 2024-03-14 criteria provided, single submitter clinical testing The p.E1181K variant (also known as c.3541G>A), located in coding exon 24 of the MYH6 gene, results from a G to A substitution at nucleotide position 3541. The glutamic acid at codon 1181 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 alteration remains unclear.

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