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, http://exac.broadinstitute.org). 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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