ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser)

gnomAD frequency: 0.00067  dbSNP: rs140389725
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557257 SCV000652786 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2023-12-05 criteria provided, single submitter clinical testing
GeneDx RCV002291666 SCV002583903 uncertain significance not provided 2022-10-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002530216 SCV003697134 likely benign Inborn genetic diseases 2022-02-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003935501 SCV004757329 likely benign POMGNT2-related condition 2023-02-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.