Submissions for variant NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)

gnomAD frequency: 0.00061  dbSNP: rs11568513

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000512974	SCV000517900	likely benign	not provided	2020-12-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16931768, 29406958)
CeGaT Center for Human Genetics Tuebingen	RCV000512974	SCV000609179	likely benign	not provided	2017-02-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001002320	SCV000632532	likely benign	Renal carnitine transport defect	2025-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001002320	SCV001160213	likely benign	Renal carnitine transport defect	2018-10-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001002320	SCV001313202	uncertain significance	Renal carnitine transport defect	2018-02-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV001002320	SCV001652761	uncertain significance	Renal carnitine transport defect	2021-05-18	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV001002320	SCV002512417	uncertain significance	Renal carnitine transport defect	2021-05-27	criteria provided, single submitter	clinical testing	ACMG classification criteria: BP4 supporting
Giacomini Lab, University of California, San Francisco	RCV001002320	SCV002576611	likely benign	Renal carnitine transport defect	2022-10-03	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV003902502	SCV004725415	likely benign	SLC22A5-related disorder	2023-02-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).