ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1021C>T (p.Arg341Trp)

gnomAD frequency: 0.00001  dbSNP: rs780990156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240478 SCV001413424 uncertain significance Renal carnitine transport defect 2024-12-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 341 of the SLC22A5 protein (p.Arg341Trp). This variant is present in population databases (rs780990156, 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: 965922). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC22A5 protein function. 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.
Natera, Inc. RCV002226523 SCV002078337 uncertain significance Decreased circulating carnitine concentration 2020-05-18 no assertion criteria provided clinical testing
Natera, Inc. RCV001240478 SCV002107460 uncertain significance Renal carnitine transport defect 2020-05-18 no assertion criteria provided clinical testing

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