ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)

gnomAD frequency: 0.00617  dbSNP: rs114819130
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338838 SCV000426814 likely benign Congenital hyperammonemia, type I 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000514724 SCV000566492 benign not provided 2021-01-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18666241)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514724 SCV000610893 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Invitae RCV000338838 SCV000777139 likely benign Congenital hyperammonemia, type I 2024-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000338838 SCV001136162 likely benign Congenital hyperammonemia, type I 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521380 SCV003745217 likely benign Inborn genetic diseases 2022-05-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV000514724 SCV003916230 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CPS1: BS2
PreventionGenetics, part of Exact Sciences RCV003940348 SCV004750672 benign CPS1-related condition 2021-10-12 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).
Natera, Inc. RCV000338838 SCV001452444 benign Congenital hyperammonemia, type I 2020-01-10 no assertion criteria provided clinical testing

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