ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.224G>C (p.Arg75Pro)

gnomAD frequency: 0.00001  dbSNP: rs757711838
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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 RCV002048130 SCV002297403 uncertain significance Renal carnitine transport defect 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 75 of the SLC22A5 protein (p.Arg75Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs757711838, ExAC 0.003%). This missense change has been observed in individual(s) with clinical features of primary carnitine deficiency (PMID: 20574985). 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. Experimental studies have shown that this missense change affects SLC22A5 function (PMID: 28841266). 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.
Fulgent Genetics, Fulgent Genetics RCV002048130 SCV002781558 uncertain significance Renal carnitine transport defect 2021-10-20 criteria provided, single submitter clinical testing

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