ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1482C>T (p.Gly494=)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002922062 SCV003258085 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-03-17 criteria provided, single submitter clinical testing This sequence change affects codon 516 of the POMT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POMT1 protein. This variant is present in population databases (rs377422156, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.