Submissions for variant NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)

gnomAD frequency: 0.00102  dbSNP: rs138392504

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000348342	SCV000426817	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga)	RCV000731749	SCV000859598	uncertain significance	not provided	2018-02-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000348342	SCV001014677	likely benign	Congenital hyperammonemia, type I	2024-12-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000731749	SCV001247077	uncertain significance	not provided	2019-08-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000731749	SCV001779461	likely benign	not provided	2020-07-15	criteria provided, single submitter	clinical testing
GenomeConnect, ClinGen	RCV000348342	SCV000840094	not provided	Congenital hyperammonemia, type I		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Natera, Inc.	RCV000348342	SCV001452446	uncertain significance	Congenital hyperammonemia, type I	2019-11-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940349	SCV004750958	likely benign	CPS1-related disorder	2022-11-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).