ClinVar Miner

Submissions for variant NM_019844.4(SLCO1B3):c.1712C>G (p.Ala571Gly)

gnomAD frequency: 0.00034  dbSNP: rs76963574
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003642936 SCV001159796 uncertain significance Rotor syndrome 2022-12-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693432 SCV005191716 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003424526 SCV004116768 uncertain significance SLCO1B3-related disorder 2024-01-04 no assertion criteria provided clinical testing The SLCO1B3 c.1712C>G variant is predicted to result in the amino acid substitution p.Ala571Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.074% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.