ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1562T>C (p.Ile521Thr)

dbSNP: rs1752787157
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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 RCV001940699 SCV002196111 uncertain significance Renal carnitine transport defect 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 521 of the SLC22A5 protein (p.Ile521Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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. 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. 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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