ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)

dbSNP: rs1007096305
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
Invitae RCV000681936 SCV001581351 pathogenic not provided 2018-05-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC7A9 are known to be pathogenic (PMID: 11157794). This variant has been observed in combination with another SLC7A9 variant in an individual affected with cystinuria type B (PMID: 25296721). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr451*) in the SLC7A9 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV002499211 SCV002805698 pathogenic Cystinuria 2021-08-27 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000681936 SCV000809422 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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.