Submissions for variant NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=)

gnomAD frequency: 0.34968  dbSNP: rs2301629

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250328	SCV000312110	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319976	SCV000470721	benign	Citrullinemia type II	2018-01-12	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.
Illumina Laboratory Services, Illumina	RCV000372383	SCV000470722	benign	Citrullinemia type I	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000250328	SCV000884509	benign	not specified	2018-12-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513948	SCV001721658	benign	Citrin deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001532820	SCV001748558	benign	Citrullinemia, type II, adult-onset	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001532821	SCV001748559	benign	Neonatal intrahepatic cholestasis due to citrin deficiency	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001354507	SCV001870299	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001354507	SCV005265307	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001277072	SCV001463807	benign	Late-onset citrullinemia	2020-09-16	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001354507	SCV001549143	uncertain significance	not provided		no assertion criteria provided	clinical testing	Allele frequency is common in at least one population database (frequency: 57.961% in ExAC) based on the frequency threshold of 1.504% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease. 4 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation. A synonymous variant not located in a splice region.