ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile)

gnomAD frequency: 0.00001  dbSNP: rs1169005119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001944506 SCV002128981 uncertain significance Renal carnitine transport defect 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 66 of the SLC22A5 protein (p.Thr66Ile). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. 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.
Giacomini Lab, University of California, San Francisco RCV001944506 SCV002576686 likely benign Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research

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