ClinVar Miner

Submissions for variant NM_005989.4(AKR1D1):c.580-1G>A

gnomAD frequency: 0.00001  dbSNP: rs749744865
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
Eurofins Ntd Llc (ga) RCV000593393 SCV000707322 likely pathogenic not provided 2017-03-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962710 SCV004795936 likely pathogenic AKR1D1-related condition 2023-12-27 criteria provided, single submitter clinical testing The AKR1D1 c.580-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD. An alternative splice variant predicted to impact the same splice site, described as c.580-13T>A, has been reported in a patient affected with an inborn error of bile acid synthesis (Chen et al. 2020. PubMed ID: 31337596). Variants that disrupt the consensus splice acceptor site in AKR1D1 are expected to be pathogenic. In summary, the c.580-1G>A variant is interpreted as likely pathogenic.

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.