ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) (rs398124247)

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
GeneDx RCV000081494 SCV000196873 pathogenic not provided 2017-03-27 criteria provided, single submitter clinical testing The R265X nonsense variant in the POMT1 gene has been reported previously in an individual with cobblestone lissencephaly who had a second nonsense variant identified on the opposite POMT1 allele (Devisme et al., 2012). The R265X variant was also reported in an individual with congenital muscular dystrophy who had also had a second variant identified on the opposite POMT1 allele (Tian et al., 2015). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R265X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the R265X variant is considered to be pathogenic.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081494 SCV000233114 pathogenic not provided 2013-08-02 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.