ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln) (rs779715863)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805571 SCV000945531 uncertain significance Hypertrophic cardiomyopathy 2018-07-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1574 of the MYH7 protein (p.Arg1574Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs779715863, ExAC 0.006%). This variant has been observed in an individual affected with hypertrophic cardiomyopathy (PMID: 27885498). ClinVar contains an entry for this variant (Variation ID: 228912). 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217985 SCV000272052 uncertain significance not specified 2015-05-14 criteria provided, single submitter clinical testing The p.Arg1574Gln variant in MYH7 has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66704 European chromosomes by the Exome Aggregation Consortium (ExAC, Comput ational prediction tools and conservation analysis suggest that the p.Arg1574Gln variant may impact the protein, though this information is not predictive enoug h to determine pathogenicity. In summary, the clinical significance of the p.Arg 1574Gln variant is uncertain.

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