ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) (rs794727208)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175325 SCV000226796 pathogenic not provided 2018-02-21 criteria provided, single submitter clinical testing
Invitae RCV000704810 SCV000833778 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2018-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg622*) in the POMT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in two individuals affected with muscular dystrophy (PMID: 22522420, 22549409). ClinVar contains an entry for this variant (Variation ID: 194859). Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000175325 SCV001167691 pathogenic not provided 2019-09-05 criteria provided, single submitter clinical testing Reported in association with limb-girdle muscular dystrophy and congenital muscular dystrophy (Bello et al., 2012; Willer et al., 2012); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Observed with a pathogenic variant on the opposite allele (in trans) in a patient with hydrocephalus, lissencephaly, eye anomaly, and hypotonia referred for genetic testing at GeneDx

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.