ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)

gnomAD frequency: 0.00001  dbSNP: rs193919337
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390610 SCV001592399 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg63*) in the POMGNT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310, 20816175, 21447391, 26908613, 27391550). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with muscle-eye-brain disease (PMID: 12588800, 26908613). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3994). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001847575 SCV004205997 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2023-03-14 criteria provided, single submitter clinical testing
OMIM RCV001847575 SCV000024367 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2009-05-26 no assertion criteria provided literature only
OMIM RCV000240891 SCV000299361 pathogenic Retinitis pigmentosa 76 2016-09-20 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529546 SCV001743169 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529546 SCV001973970 likely pathogenic not provided no assertion criteria provided 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.