ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2369T>C (p.Met790Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002457751 SCV002735847 uncertain significance Cardiovascular phenotype 2020-12-22 criteria provided, single submitter clinical testing The p.M790T variant (also known as c.2369T>C), located in coding exon 18 of the MYH6 gene, results from a T to C substitution at nucleotide position 2369. The methionine at codon 790 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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.
Neuberg Centre For Genomic Medicine, NCGM RCV004577018 SCV005060976 uncertain significance Hypertrophic cardiomyopathy 14 criteria provided, single submitter clinical testing The missense variant c.2369T>C (p.Met790Thr) in the MYH6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0003%) in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. The amino acid Methionine at position 790 is changed to a Threonine changing protein sequence and it might alter its composition and physico- chemical properties. The amino acid change p.Met790Thr in MYH6 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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