ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.893G>T (p.Arg298Leu)

dbSNP: rs747835354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371991 SCV001568578 uncertain significance Renal carnitine transport defect 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 298 of the SLC22A5 protein (p.Arg298Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. 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: "Benign"; Align-GVGD: "Class C25"). 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 RCV003375269 SCV004095161 uncertain significance Inborn genetic diseases 2023-08-21 criteria provided, single submitter clinical testing The c.893G>T (p.R298L) alteration is located in exon 5 (coding exon 5) of the SLC22A5 gene. This alteration results from a G to T substitution at nucleotide position 893, causing the arginine (R) at amino acid position 298 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV002226547 SCV002078330 uncertain significance Decreased circulating carnitine concentration 2021-03-04 no assertion criteria provided clinical testing
Natera, Inc. RCV001371991 SCV002107452 uncertain significance Renal carnitine transport defect 2021-03-04 no assertion criteria provided clinical testing

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