ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)

gnomAD frequency: 0.00035  dbSNP: rs142447950
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554108 SCV000632559 pathogenic Renal carnitine transport defect 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 202 of the SLC22A5 protein (p.Leu202Pro). This variant is present in population databases (rs142447950, gnomAD 0.07%). This missense change has been observed in individual(s) with clinical features of primary carnitine deficiency (Invitae). 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: 460410). 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 expected to disrupt SLC22A5 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000554108 SCV000895658 uncertain significance Renal carnitine transport defect 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000554108 SCV002055849 uncertain significance Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Giacomini Lab, University of California, San Francisco RCV000554108 SCV002576713 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV003480672 SCV004227123 uncertain significance not provided 2023-02-23 criteria provided, single submitter clinical testing PP3
Natera, Inc. RCV000554108 SCV001458332 uncertain significance Renal carnitine transport defect 2020-05-01 no assertion criteria provided clinical testing

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