ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5485G>C (p.Glu1829Gln)

gnomAD frequency: 0.00004  dbSNP: rs727504626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155886 SCV000205597 uncertain significance not specified 2013-08-11 criteria provided, single submitter clinical testing The Glu1829Gln variant in MYH6 has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information i s needed to fully assess the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001850140 SCV002182673 uncertain significance Hypertrophic cardiomyopathy 14 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1829 of the MYH6 protein (p.Glu1829Gln). This variant is present in population databases (rs727504626, gnomAD 0.01%). 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: 179101). 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 with a negative predictive value of 80%. 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.
GeneDx RCV003128585 SCV003805047 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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