Submissions for variant NM_003060.4(SLC22A5):c.652+6=

dbSNP: rs4551059

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080057	SCV000111952	benign	not specified	2017-12-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000080057	SCV000171658	benign	not specified	2013-05-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000022335	SCV000452730	benign	Renal carnitine transport defect	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000022335	SCV000605128	benign	Renal carnitine transport defect	2020-04-13	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000022335	SCV000679882	benign	Renal carnitine transport defect	2017-08-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588754	SCV000698152	benign	not provided	2016-04-18	criteria provided, single submitter	clinical testing	Variant summary: The SLC22A5 c.652+6A>G variant affects a non-conserved intronic nucleotide. Mutation Taster predicts a polymorphism outcome for this variant, and 5/5 Alamut algorithms predict not significant change to splicing. This variant was found in homozygous state in all 121410 control chromosomes from ExAC suggesting that nucleotide G is the ancestral allele at this cDNA position. Additionally, this variant has been reported to co-occur in a CDSP patient with potentially pathogenic SLC22A5 variants T440M (c.1319C>T) and F23del (c.67_69delTTC) that were in compound heterozygous state, indicating that this variant was not a causal variant. In addition, multiple clinical laboratories have classified this variant as benign. Taken together, this variant has been classified as Benign.
Invitae	RCV000022335	SCV001728988	benign	Renal carnitine transport defect	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000022335	SCV001738689	benign	Renal carnitine transport defect	2021-06-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000022335	SCV002055871	benign	Renal carnitine transport defect	2021-07-15	criteria provided, single submitter	clinical testing