ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.283C>G (p.Leu95Val)

dbSNP: rs386134191
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000022316 SCV001421040 uncertain significance Renal carnitine transport defect 2019-10-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported to have conflicting or insufficient data to determine the effect on SLC22A5 protein function (PMID: 28841266). This variant has been observed in the homozygous state in an individual affected with primary carnitine deficiency; however, this individual was also found to have a second homozygous variant in the SLC22A5 gene (PMID: 28841266). ClinVar contains an entry for this variant (Variation ID: 25369). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 95 of the SLC22A5 protein (p.Leu95Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.

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.