ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1078T>C (p.Tyr360His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002291844 SCV002583924 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002416557 SCV002729865 uncertain significance Cardiovascular phenotype 2024-08-07 criteria provided, single submitter clinical testing The p.Y360H variant (also known as c.1078T>C), located in coding exon 10 of the MYH6 gene, results from a T to C substitution at nucleotide position 1078. The tyrosine at codon 360 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003514549 SCV004277345 uncertain significance Hypertrophic cardiomyopathy 14 2022-11-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1710557). 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 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. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 360 of the MYH6 protein (p.Tyr360His). This variant has not been reported in the literature in individuals affected with MYH6-related conditions.

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