Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003616034 | SCV004380983 | uncertain significance | Myofibrillar myopathy 3 | 2023-06-24 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs768353951, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 226 of the MYOT protein (p.Gln226Leu). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. |