ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs794727208
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175325 SCV000226796 pathogenic not provided 2018-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000704810 SCV000833778 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-26 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. Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). This variant is present in population databases (rs794727208, gnomAD 0.007%). This premature translational stop signal has been observed in individuals with muscular dystrophy (PMID: 22522420, 22549409). ClinVar contains an entry for this variant (Variation ID: 194859). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000175325 SCV001167691 pathogenic not provided 2022-01-10 criteria provided, single submitter clinical testing 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22522420, 28512129, 22549409)
Revvity Omics, Revvity RCV000175325 SCV002019487 pathogenic not provided 2020-08-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474928 SCV004204037 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2023-12-29 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.