ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2399G>A (p.Arg800His)

gnomAD frequency: 0.00003  dbSNP: rs535438755
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246827 SCV001420214 uncertain significance Hypertrophic cardiomyopathy 14 2022-07-05 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"). ClinVar contains an entry for this variant (Variation ID: 971126). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs535438755, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 800 of the MYH6 protein (p.Arg800His).
GeneDx RCV002260693 SCV002540500 uncertain significance not provided 2024-05-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002447222 SCV002732442 uncertain significance Cardiovascular phenotype 2023-08-07 criteria provided, single submitter clinical testing The p.R800H variant (also known as c.2399G>A), located in coding exon 18 of the MYH6 gene, results from a G to A substitution at nucleotide position 2399. The arginine at codon 800 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002499425 SCV002800756 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-10-12 criteria provided, single submitter clinical testing

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