ClinVar Miner

Submissions for variant NM_002226.5(JAG2):c.490G>A (p.Glu164Lys)

dbSNP: rs1888570315
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
SIB Swiss Institute of Bioinformatics RCV001731213 SCV002500956 uncertain significance Muscular dystrophy, limb-girdle, autosomal recessive 27 2022-04-20 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Muscular dystrophy, limb-girdle, autosomal recessive 27. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3).
OMIM RCV001731213 SCV001981622 pathogenic Muscular dystrophy, limb-girdle, autosomal recessive 27 2021-10-19 no assertion criteria provided literature only

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.