Submissions for variant NM_000531.6(OTC):c.298+5G>C

gnomAD frequency: 0.00058  dbSNP: rs72554348

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000375335	SCV000334662	benign	not specified	2015-08-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000378189	SCV000482292	likely benign	Ornithine carbamoyltransferase deficiency	2018-02-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000375335	SCV000520980	benign	not specified	2016-08-25	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000378189	SCV000631859	benign	Ornithine carbamoyltransferase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313837	SCV000849237	benign	Inborn genetic diseases	2016-11-09	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics	RCV000378189	SCV001141820	benign	Ornithine carbamoyltransferase deficiency	2019-05-28	criteria provided, single submitter	clinical testing
GenMed Metabolism Lab	RCV000083395	SCV000115481	pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Pathogenic.
SingHealth Duke-NUS Institute of Precision Medicine	RCV000378189	SCV000853171	uncertain significance	Ornithine carbamoyltransferase deficiency	2017-06-07	no assertion criteria provided	curation
Natera, Inc.	RCV000378189	SCV001453007	benign	Ornithine carbamoyltransferase deficiency	2020-04-03	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925087	SCV004739667	benign	OTC-related disorder	2020-04-21	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).