ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1361A>T (p.Tyr454Phe)

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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 RCV002650937 SCV003514343 uncertain significance Renal carnitine transport defect 2021-12-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 454 of the SLC22A5 protein (p.Tyr454Phe). This variant is present in population databases (rs754265674, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC22A5 protein function. Experimental studies have shown that this missense change does not substantially affect SLC22A5 function (PMID: 14665638). 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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