Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
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). |