Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003219120 | SCV003915390 | uncertain significance | not provided | 2022-10-06 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV003615941 | SCV004458611 | uncertain significance | Myofibrillar myopathy 3 | 2023-09-21 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 2498054). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 455 of the MYOT protein (p.Arg455Trp). This variant is present in population databases (rs761598206, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. 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 disruptive. 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. |