ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.511C>T (p.Leu171Phe)

gnomAD frequency: 0.00001  dbSNP: rs997275341
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
Invitae RCV001325402 SCV001516394 uncertain significance Myofibrillar myopathy 3 2022-07-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYOT-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1025125). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 171 of the MYOT protein (p.Leu171Phe).
Mayo Clinic Laboratories, Mayo Clinic RCV001508172 SCV001714145 uncertain significance not provided 2020-06-12 criteria provided, single submitter clinical testing

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.