Submissions for variant NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)

gnomAD frequency: 0.00013  dbSNP: rs201246466

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000873150	SCV001015089	benign	Congenital hyperammonemia, type I	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000873150	SCV001303505	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.
Diagnostic Laboratory, Strasbourg University Hospital	RCV001260693	SCV001437785	uncertain significance	Intellectual disability	2020-09-10	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000873150	SCV001457529	benign	Congenital hyperammonemia, type I	2020-01-08	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955702	SCV004775542	benign	CPS1-related disorder	2021-01-11	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).