ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.866G>A (p.Arg289Gln)

dbSNP: rs756260416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Giacomini Lab, University of California, San Francisco RCV002286662 SCV002576679 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002286662 SCV003439763 uncertain significance Renal carnitine transport defect 2022-05-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 289 of the SLC22A5 protein (p.Arg289Gln). This variant is present in population databases (rs756260416, gnomAD 0.02%). 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. 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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