ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.80A>G (p.Gln27Arg)

dbSNP: rs878853843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229274 SCV000284298 uncertain significance Hypertrophic cardiomyopathy 2023-02-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 27 of the MYH7 protein (p.Gln27Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 237445). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYH7 protein function. 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.
Ambry Genetics RCV002417989 SCV002679121 uncertain significance Cardiovascular phenotype 2022-09-02 criteria provided, single submitter clinical testing The p.Q27R variant (also known as c.80A>G), located in coding exon 1 of the MYH7 gene, results from an A to G substitution at nucleotide position 80. The glutamine at codon 27 is replaced by arginine, an amino acid with highly similar properties. This variant has been detected in individuals referred for hypertrophic cardiomyopathy genetic testing; however, details were limited (Walsh R et al. Genet. Med., 2017 02;19:192-203). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002494622 SCV002777140 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-07-13 criteria provided, single submitter clinical testing

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