ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp)

gnomAD frequency: 0.00002  dbSNP: rs753453677
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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 RCV000635349 SCV000756754 uncertain significance Renal carnitine transport defect 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 70 of the SLC22A5 protein (p.Arg70Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 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.
Fulgent Genetics, Fulgent Genetics RCV000635349 SCV002785568 uncertain significance Renal carnitine transport defect 2021-07-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV002226474 SCV002078279 uncertain significance Decreased circulating carnitine concentration 2021-04-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000635349 SCV002107481 uncertain significance Renal carnitine transport defect 2021-04-16 no assertion criteria provided clinical testing

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