ClinVar Miner

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

dbSNP: rs72552723
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022298 SCV000793627 uncertain significance Renal carnitine transport defect 2017-08-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730713 SCV000858474 pathogenic not provided 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV000022298 SCV001202868 pathogenic Renal carnitine transport defect 2020-09-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 19 of the SLC22A5 protein (p.Arg19Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with carnitine deficiency (PMID: 11715001), and the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 25351). This variant has been reported to affect SLC22A5 protein function (PMID: 11715001, 28841266, 16652335). 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 2023-09-01 criteria provided, single submitter clinical testing

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