ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.976C>A (p.Gln326Lys)

dbSNP: rs1047810495
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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 RCV001369709 SCV001566156 uncertain significance Renal carnitine transport defect 2020-10-09 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt SLC22A5 protein function. This variant has not been reported in the literature in individuals with SLC22A5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with lysine at codon 326 of the SLC22A5 protein (p.Gln326Lys). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and lysine.

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