ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1477A>C (p.Ile493Leu)

dbSNP: rs2126792661
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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 RCV001870412 SCV002120350 uncertain significance Renal carnitine transport defect 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 493 of the SLC22A5 protein (p.Ile493Leu). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1357067). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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