ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro)

dbSNP: rs386134214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506707 SCV000605130 uncertain significance not specified 2016-12-09 criteria provided, single submitter clinical testing
Invitae RCV003507248 SCV004292847 likely pathogenic Renal carnitine transport defect 2023-02-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs386134214, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 363 of the SLC22A5 protein (p.Leu363Pro). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 28841266). ClinVar contains an entry for this variant (Variation ID: 25408). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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