ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1854G>A (p.Met618Ile)

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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 RCV002891170 SCV003248489 uncertain significance Hypertrophic cardiomyopathy 14 2022-05-18 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 618 of the MYH6 protein (p.Met618Ile). This variant is present in population databases (rs751266021, gnomAD 0.002%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MYH6-related conditions.
Ambry Genetics RCV003274069 SCV004007613 uncertain significance Cardiovascular phenotype 2023-04-03 criteria provided, single submitter clinical testing The p.M618I variant (also known as c.1854G>A), located in coding exon 13 of the MYH6 gene, results from a G to A substitution at nucleotide position 1854. The methionine at codon 618 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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