ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)

dbSNP: rs72552723
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730713 SCV000858474 pathogenic not provided 2017-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022298 SCV001202868 pathogenic Renal carnitine transport defect 2024-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 19 of the SLC22A5 protein (p.Arg19Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with carnitine deficiency (PMID: 11715001). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 25351). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SLC22A5 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects SLC22A5 function (PMID: 11715001, 16652335, 28841266). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000022298 SCV002055736 pathogenic Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000022298 SCV004201285 likely pathogenic Renal carnitine transport defect 2024-02-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000022298 SCV005669182 likely pathogenic Renal carnitine transport defect 2024-06-07 criteria provided, single submitter clinical testing
Counsyl RCV000022298 SCV000793627 uncertain significance Renal carnitine transport defect 2017-08-28 flagged submission clinical testing

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