Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595613 | SCV000708901 | uncertain significance | not provided | 2017-05-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001338667 | SCV001532353 | uncertain significance | Myofibrillar myopathy 3 | 2023-05-05 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 502240). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (rs769872126, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 434 of the MYOT protein (p.Cys434Arg). |
Revvity Omics, |
RCV001338667 | SCV003810962 | uncertain significance | Myofibrillar myopathy 3 | 2020-02-04 | criteria provided, single submitter | clinical testing |