ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2001C>G (p.Cys667Trp)

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
Igenomix - Part of Vitrolife Group, Igenomix RCV004691649 SCV005187252 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 criteria provided, single submitter clinical testing The POMT1 variant (NM_001077365.2:c.2001C>G, p.Cys667Trp) replaces the amino acid Cysteine with Trypotophan. The in silico tools predict a moderately deleterious affect of the variant on the protein. This variant is absent in the gnomAD v4.1.0 (PM2). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. Based on the evidence outlined above, the variant was classified as variant of uncertain significance (PM2, PP3). The variant was identified in the heterozygous state through carrier screening.

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.