ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu)

dbSNP: rs397516247
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Total submissions: 4
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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 RCV000035962 SCV000059614 uncertain significance not specified 2018-11-01 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000158697 SCV000208632 uncertain significance not provided 2024-05-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28606303, 20474083, 22464770, 27532257, 24503780, 37652022)
Labcorp Genetics (formerly Invitae), Labcorp RCV000471537 SCV000546194 uncertain significance Hypertrophic cardiomyopathy 2016-05-20 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. A computational algorithm designed to assess the pathogenicity of variants in MYH7 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 22464770). ClinVar contains an entry for this variant (Variation ID: 43067). This variant is not present in population databases (rs397516247, ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 1794 of the MYH7 protein (p.Gln1794Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770470 SCV000901913 likely pathogenic Cardiomyopathy 2023-06-28 criteria provided, single submitter clinical testing

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