ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.596T>C (p.Leu199Pro)

dbSNP: rs1752446862
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204498 SCV001375707 uncertain significance Renal carnitine transport defect 2019-09-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC22A5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 sequence change replaces leucine with proline at codon 199 of the SLC22A5 protein (p.Leu199Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.

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