ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.68G>A (p.Arg23His)

gnomAD frequency: 0.00001  dbSNP: rs771786844
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647076 SCV000768863 uncertain significance Hypertrophic cardiomyopathy 14 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 23 of the MYH6 protein (p.Arg23His). This variant is present in population databases (rs771786844, gnomAD 0.003%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 26656175). ClinVar contains an entry for this variant (Variation ID: 537970). 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) performed at Invitae indicates that this missense variant is not expected to disrupt MYH6 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770462 SCV000901905 uncertain significance Cardiomyopathy 2017-09-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499103 SCV002788675 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-07-13 criteria provided, single submitter clinical testing
GeneDx RCV003162939 SCV003915211 uncertain significance not provided 2022-09-22 criteria provided, single submitter clinical testing Identified in an individual with hypertrophic cardiomyopathy in the published literature who also carried variants in other cardiomyopathy genes and segregation data is limited (Bottillo et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34426522, 26656175)

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