ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1588A>G (p.Met530Val)

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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 RCV003087220 SCV003487706 uncertain significance Renal carnitine transport defect 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 530 of the SLC22A5 protein (p.Met530Val). This variant is present in population databases (rs11568524, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected 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 tolerated. Experimental studies have shown that this missense change does not substantially affect SLC22A5 function (PMID: 18337137). 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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