ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1391G>A (p.Gly464Glu)

dbSNP: rs1752740146
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 RCV001050973 SCV001215106 uncertain significance Renal carnitine transport defect 2021-08-31 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001050973 SCV005199834 uncertain significance Renal carnitine transport defect criteria provided, single submitter clinical testing This variant is reported in ClinVar database (847432). In-silico analysis tools (REVEL, CADD and mutation Taster) predict the variant to be disease-causing and likely to affect the SLC22A5 protein function. Bi-allelic variants in SLC22A5 are associated with carnitine deficiency, systemic primary (MIM#212140) characterized by hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia.

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.