ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.167C>T (p.Ser56Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003389383 SCV004101542 uncertain significance Myofibrillar myopathy 3 criteria provided, single submitter clinical testing The c.167C>T (p.Ser56Leu) missense variant in MYOT gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser56Leu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ser at position 56 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ser56Leu in MYOT is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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