ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.53A>G (p.Gln18Arg)

dbSNP: rs2126764776
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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 RCV001933263 SCV002187887 uncertain significance Renal carnitine transport defect 2021-05-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 18 of the SLC22A5 protein (p.Gln18Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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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