ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.109C>G (p.Leu37Val)

dbSNP: rs796052037
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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 RCV001068817 SCV001233949 uncertain significance Renal carnitine transport defect 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 37 of the SLC22A5 protein (p.Leu37Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). 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: 203934). 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 tolerated. 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.

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