ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.196A>C (p.Thr66Pro)

dbSNP: rs1476076948
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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 RCV001365100 SCV001561343 uncertain significance Renal carnitine transport defect 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 66 of the SLC22A5 protein (p.Thr66Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with primary carnitinedeficiency (PMID: 20574985, 26828774, 28841266). ClinVar contains an entry for this variant (Variation ID: 1056294). 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 affects SLC22A5 function (PMID: 28841266). 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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