Submissions for variant NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)

gnomAD frequency: 0.33052  dbSNP: rs1047891

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116832	SCV000168027	benign	not specified	2013-06-18	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.
PreventionGenetics, part of Exact Sciences	RCV000116832	SCV000308505	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000274786	SCV000426847	benign	Congenital hyperammonemia, type I	2018-03-06	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000274786	SCV000744167	benign	Congenital hyperammonemia, type I	2017-05-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000274786	SCV001733023	benign	Congenital hyperammonemia, type I	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000274786	SCV001761795	benign	Congenital hyperammonemia, type I	2021-07-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004707956	SCV005241047	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV003334453	SCV000022682	benign	CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM	2011-09-01	no assertion criteria provided	literature only
Genetic Services Laboratory, University of Chicago	RCV000116832	SCV000150906	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
OMIM	RCV003334452	SCV000924353	risk factor	Pulmonary hypertension, neonatal, susceptibility to	2011-09-01	no assertion criteria provided	literature only
Natera, Inc.	RCV000274786	SCV001453733	benign	Congenital hyperammonemia, type I	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000116832	SCV001923813	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116832	SCV002037377	benign	not specified		no assertion criteria provided	clinical testing