ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)

gnomAD frequency: 0.00001  dbSNP: rs377767445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595593 SCV000707114 uncertain significance not provided 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000022304 SCV000756759 pathogenic Renal carnitine transport defect 2023-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro46 amino acid residue in SLC22A5. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17126586, 20574985, 23430858, 27896095, 28841266). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 25357). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 26828774, 28841266). This variant is present in population databases (rs377767445, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 46 of the SLC22A5 protein (p.Pro46Leu).
Genome-Nilou Lab RCV000022304 SCV002055737 pathogenic Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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