ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)

dbSNP: rs2040788600
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001065245 SCV001230195 pathogenic Fanconi anemia 2019-03-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). This variant has not been reported in the literature in individuals with SLX4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln187*) in the SLX4 gene. It is expected to result in an absent or disrupted protein product.
AiLife Diagnostics, AiLife Diagnostics RCV002223984 SCV002502254 likely pathogenic not provided 2022-03-17 criteria provided, single submitter clinical testing

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.