ClinVar Miner

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

gnomAD frequency: 0.00058  dbSNP: rs72554348
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Total submissions: 10
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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.
Invitae 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
PreventionGenetics, part of Exact Sciences RCV003925087 SCV004739667 benign OTC-related disorder 2020-04-21 criteria provided, single submitter 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).
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

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