ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)

dbSNP: rs1596520443
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
Mendelics RCV000989494 SCV001139907 likely pathogenic Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
DASA RCV002307648 SCV002600245 likely pathogenic Fanconi anemia complementation group P 2022-11-03 criteria provided, single submitter clinical testing The c.4088C>A;p.(Ser1363*) variant creates a premature translational stop signal in the SLX4 gene. It is expected to result in an absent or disrupted protein product - PVS1.This variant is not present in population databases (rs1596520443, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic.
Invitae RCV002550612 SCV003514536 pathogenic Fanconi anemia 2022-05-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser1363*) in the SLX4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). ClinVar contains an entry for this variant (Variation ID: 803196). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is not present in population databases (gnomAD no frequency).

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.