ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.372del (p.Ala125fs)

gnomAD frequency: 0.00001  dbSNP: rs781353247
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 RCV000543818 SCV000638815 uncertain significance Myofibrillar myopathy 3 2023-09-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs781353247, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ala125Leufs*5) in the MYOT gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYOT cause disease. This premature translational stop signal has been observed in individual(s) with clinical features of MYOT-related conditions (PMID: 32528171). ClinVar contains an entry for this variant (Variation ID: 464370). 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.
Revvity Omics, Revvity RCV000543818 SCV003810974 uncertain significance Myofibrillar myopathy 3 2021-10-26 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.