ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2141G>A (p.Arg714His) (rs776602843)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494176 SCV000581912 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing The R714H variant in the MYH6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R714H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R714H variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R714H as a variant of uncertain significance,
Illumina Clinical Services Laboratory,Illumina RCV000360189 SCV000385723 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267766 SCV000385724 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320649 SCV000385725 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000816987 SCV000957520 uncertain significance Familial hypertrophic cardiomyopathy 14 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 714 of the MYH6 protein (p.Arg714His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs776602843, ExAC 0.001%). This variant has not been reported in the literature in individuals with MYH6-related disease. ClinVar contains an entry for this variant (Variation ID: 312873). 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.

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