ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter)

gnomAD frequency: 0.00003  dbSNP: rs72552731
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
Baylor Genetics RCV003472775 SCV004201260 pathogenic Renal carnitine transport defect 2023-10-20 criteria provided, single submitter clinical testing
Invitae RCV003472775 SCV004292848 pathogenic Renal carnitine transport defect 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr387*) in the SLC22A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC22A5 are known to be pathogenic (PMID: 9916797). This variant is present in population databases (rs72552731, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with autosomal recessive primary carnitine deficiency (PMID: 12204000). For these reasons, this variant has been classified as 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.