ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr)

gnomAD frequency: 0.00006  dbSNP: rs201892419
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
Invitae RCV000705377 SCV000834370 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001585656 SCV001819981 uncertain significance not provided 2019-10-08 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in heterozygous state in an individual with isolated hypogonadotropic hypogonadism (Zhou et al., 2018); This variant is associated with the following publications: (PMID: 30098700)

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.