Submissions for variant NM_003060.4(SLC22A5):c.613A>C (p.Met205Leu)

gnomAD frequency: 0.00001  dbSNP: rs1322301830

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001302447	SCV001491657	uncertain significance	Renal carnitine transport defect	2023-09-11	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 not expected to disrupt SLC22A5 protein function. ClinVar contains an entry for this variant (Variation ID: 1005556). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 205 of the SLC22A5 protein (p.Met205Leu).
Giacomini Lab, University of California, San Francisco	RCV001302447	SCV002576723	uncertain significance	Renal carnitine transport defect	2022-10-03	criteria provided, single submitter	research
Natera, Inc.	RCV002226534	SCV002078308	uncertain significance	Decreased circulating carnitine concentration	2021-06-08	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001302447	SCV002107431	uncertain significance	Renal carnitine transport defect	2021-06-08	no assertion criteria provided	clinical testing