ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.122T>C (p.Ile41Thr)

gnomAD frequency: 0.00001  dbSNP: rs587780396
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117696 SCV000151943 uncertain significance not provided 2014-02-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000117696 SCV000704822 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Invitae RCV001854569 SCV002208733 uncertain significance Myofibrillar myopathy 3 2021-08-29 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 129682). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 41 of the MYOT protein (p.Ile41Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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.