ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe)

dbSNP: rs759925126
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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 RCV001219034 SCV001390954 pathogenic Renal carnitine transport defect 2023-09-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 947886). This missense change has been observed in individual(s) with clinical features of SLC22A5-related conditions (PMID: 35095998; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs759925126, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 157 of the SLC22A5 protein (p.Ser157Phe).
Mayo Clinic Laboratories, Mayo Clinic RCV004792811 SCV005411862 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing PP3, PM2, PM3_supporting
Natera, Inc. RCV002226520 SCV002078305 uncertain significance Decreased circulating carnitine concentration 2020-07-06 no assertion criteria provided clinical testing
Natera, Inc. RCV001219034 SCV002107429 uncertain significance Renal carnitine transport defect 2020-07-06 no assertion criteria provided clinical testing

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