ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2174G>T (p.Arg725Leu)

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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 RCV003065190 SCV003453547 uncertain significance Hypertrophic cardiomyopathy 14 2022-02-08 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs781467923, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 725 of the MYH6 protein (p.Arg725Leu).
Ambry Genetics RCV004985141 SCV005451650 uncertain significance Cardiovascular phenotype 2024-08-10 criteria provided, single submitter clinical testing The p.R725L variant (also known as c.2174G>T), located in coding exon 17 of the MYH6 gene, results from a G to T substitution at nucleotide position 2174. The arginine at codon 725 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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