ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4925A>C (p.Gln1642Pro)

dbSNP: rs1487346307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001884273 SCV002153515 uncertain significance Hypertrophic cardiomyopathy 14 2021-02-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MYH6-related conditions. This sequence change replaces glutamine with proline at codon 1642 of the MYH6 protein (p.Gln1642Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). 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"). 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 RCV002343972 SCV002646210 uncertain significance Cardiovascular phenotype 2022-12-18 criteria provided, single submitter clinical testing The p.Q1642P variant (also known as c.4925A>C), located in coding exon 31 of the MYH6 gene, results from an A to C substitution at nucleotide position 4925. The glutamine at codon 1642 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004820214 SCV005441201 uncertain significance not provided 2024-06-26 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

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