Submissions for variant NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser)

gnomAD frequency: 0.00001  dbSNP: rs1157198543

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001380048	SCV001577980	pathogenic	Renal carnitine transport defect	2023-06-23	criteria provided, single submitter	clinical testing	Experimental studies have shown that this missense change affects SLC22A5 function (PMID: 28841266). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 507 of the SLC22A5 protein (p.Leu507Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 20574985). ClinVar contains an entry for this variant (Variation ID: 1068475). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV001380048	SCV005056776	likely pathogenic	Renal carnitine transport defect	2024-01-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001380048	SCV005669237	likely pathogenic	Renal carnitine transport defect	2024-03-05	criteria provided, single submitter	clinical testing
Giacomini Lab, University of California, San Francisco	RCV001380048	SCV002576724	uncertain significance	Renal carnitine transport defect	2022-10-03	flagged submission	research