Submissions for variant NM_001875.5(CPS1):c.2448C>T (p.Cys816=)

gnomAD frequency: 0.01788  dbSNP: rs75395645

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124591	SCV000168024	benign	not specified	2014-04-02	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	RCV000124591	SCV000308496	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000287983	SCV000426836	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000287983	SCV000659345	benign	Congenital hyperammonemia, type I	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000287983	SCV000743141	benign	Congenital hyperammonemia, type I	2014-10-10	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000287983	SCV000744165	benign	Congenital hyperammonemia, type I	2017-06-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000287983	SCV001876294	benign	Congenital hyperammonemia, type I	2021-07-30	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000287983	SCV001463784	benign	Congenital hyperammonemia, type I	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000124591	SCV001921016	benign	not specified		no assertion criteria provided	clinical testing