ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)

dbSNP: rs538372785
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050052 SCV001214140 pathogenic Renal carnitine transport defect 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 266 of the SLC22A5 protein (p.Pro266Leu). This variant is present in population databases (rs538372785, gnomAD 0.05%). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 30863740, 31364285). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 846688). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC22A5 protein function with a positive predictive value of 95%. This variant disrupts the p.Pro266 amino acid residue in SLC22A5. Other variant(s) that disrupt this residue have been observed in individuals with SLC22A5-related conditions (Invitae), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Giacomini Lab, University of California, San Francisco RCV001050052 SCV002576657 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Baylor Genetics RCV001050052 SCV004201277 pathogenic Renal carnitine transport defect 2024-03-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV002226512 SCV002078320 pathogenic Decreased circulating carnitine concentration 2020-11-04 no assertion criteria provided clinical testing
Natera, Inc. RCV001050052 SCV002107443 pathogenic Renal carnitine transport defect 2020-11-04 no assertion criteria provided 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.