ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.518T>C (p.Leu173Pro)

dbSNP: rs1752441594
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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 RCV001339139 SCV001532860 uncertain significance Renal carnitine transport defect 2020-10-25 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with SLC22A5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 173 of the SLC22A5 protein (p.Leu173Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Natera, Inc. RCV002226540 SCV002078307 uncertain significance Decreased circulating carnitine concentration 2021-05-24 no assertion criteria provided clinical testing
Natera, Inc. RCV001339139 SCV002107430 uncertain significance Renal carnitine transport defect 2021-05-24 no assertion criteria provided clinical testing

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