Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003485851 | SCV003810972 | uncertain significance | Myofibrillar myopathy 3 | 2021-03-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003485851 | SCV004395841 | uncertain significance | Myofibrillar myopathy 3 | 2023-06-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 2433994). 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 tolerated. This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 75 of the MYOT protein (p.Gln75His). |