ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) (rs144547521)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224074 SCV000111942 pathogenic not provided 2015-12-30 criteria provided, single submitter clinical testing
Counsyl RCV000022365 SCV000220651 likely pathogenic Renal carnitine transport defect 2014-08-27 criteria provided, single submitter literature only
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224074 SCV000281277 pathogenic not provided 2015-06-19 criteria provided, single submitter clinical testing
Invitae RCV000022365 SCV000819827 pathogenic Renal carnitine transport defect 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 398 of the SLC22A5 protein (p.Pro398Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs144547521, ExAC 0.05%). This variant has been observed in combination with pathogenic variants in individuals affected with primary carnitine deficiency (PMID: 16652335, 20574985, Invitae). ClinVar contains an entry for this variant (Variation ID: 25411). Experimental studies have shown that this missense change reduces carnitine transport in vitro (PMID: 16652335). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022365 SCV000043050 not provided Renal carnitine transport defect no assertion provided clinical testing

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