ClinVar Miner

Submissions for variant NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg)

gnomAD frequency: 0.00001  dbSNP: rs28942110
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003398425 SCV004105452 likely pathogenic SAR1B-related disorder 2023-07-24 criteria provided, single submitter clinical testing The SAR1B c.537T>A variant is predicted to result in the amino acid substitution p.Ser179Arg. This variant was reported as pathogenic in patients with chylomicron retention disease (Jones et al. 2003. PubMed ID: 12692552; Charcosset et al. 2007. PubMed ID: 17945526). This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-133942700-A-T). This variant is interpreted as likely pathogenic.
OMIM RCV000003059 SCV000023217 pathogenic Chylomicron retention disease 2008-01-01 no assertion criteria provided literature only
GeneReviews RCV000003059 SCV002318919 not provided Chylomicron retention disease no assertion 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.