ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)

dbSNP: rs72552735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000006788 SCV001237168 pathogenic Renal carnitine transport defect 2022-09-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SLC22A5 function (PMID: 10454528, 10559218, 28841266). 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. ClinVar contains an entry for this variant (Variation ID: 6419). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 10072434). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 478 of the SLC22A5 protein (p.Pro478Leu).
Baylor Genetics RCV000006788 SCV004201287 likely pathogenic Renal carnitine transport defect 2023-08-31 criteria provided, single submitter clinical testing
OMIM RCV000006788 SCV000026984 pathogenic Renal carnitine transport defect 1999-04-01 no assertion criteria provided literature only

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