Submissions for variant NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)

gnomAD frequency: 0.00063  dbSNP: rs145792427

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001001461	SCV000632537	likely benign	Renal carnitine transport defect	2025-01-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001461	SCV001158711	uncertain significance	Renal carnitine transport defect	2022-03-22	criteria provided, single submitter	clinical testing	The SLC22A5 c.1579G>C; p.Val527Leu variant (rs145792427), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 460401). This variant is found in the African population with an overall allele frequency of 0.28% (70/24968 alleles) in the Genome Aggregation Database. The valine at codon 527 is moderately conserved and computational analyses predict that this variant is neutral (REVEL: 0.127). However, due to limited information, the clinical significance of the p.Val527Leu variant is uncertain at this time.
GeneDx	RCV001557968	SCV001779823	uncertain significance	not provided	2024-07-22	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV001001461	SCV002055781	uncertain significance	Renal carnitine transport defect	2021-07-15	criteria provided, single submitter	clinical testing
Giacomini Lab, University of California, San Francisco	RCV001001461	SCV002576725	uncertain significance	Renal carnitine transport defect	2022-10-03	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV003942768	SCV004765994	uncertain significance	SLC22A5-related disorder	2023-11-16	no assertion criteria provided	clinical testing	The SLC22A5 c.1579G>C variant is predicted to result in the amino acid substitution p.Val527Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.28% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-131729496-G-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.