ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.298G>C (p.Gly100Arg)

gnomAD frequency: 0.00001  dbSNP: rs779263168
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245175 SCV001418445 uncertain significance Renal carnitine transport defect 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 100 of the SLC22A5 protein (p.Gly100Arg). This variant is present in population databases (rs779263168, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 969757). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004034816 SCV004951211 uncertain significance Inborn genetic diseases 2023-11-03 criteria provided, single submitter clinical testing The c.298G>C (p.G100R) alteration is located in exon 1 (coding exon 1) of the SLC22A5 gene. This alteration results from a G to C substitution at nucleotide position 298, causing the glycine (G) at amino acid position 100 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV002226527 SCV002078292 uncertain significance Decreased circulating carnitine concentration 2020-12-04 no assertion criteria provided clinical testing
Natera, Inc. RCV001245175 SCV002107416 uncertain significance Renal carnitine transport defect 2020-12-04 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.