ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.