Submissions for variant NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)

gnomAD frequency: 0.00018  dbSNP: rs200569046

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192871	SCV000247089	uncertain significance	not specified	2014-06-10	criteria provided, single submitter	clinical testing
Invitae	RCV000655217	SCV000777143	likely benign	Congenital hyperammonemia, type I	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000655217	SCV001303509	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.
Elsea Laboratory, Baylor College of Medicine	RCV000655217	SCV001424188	uncertain significance	Congenital hyperammonemia, type I	2020-04-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000655217	SCV001457530	benign	Congenital hyperammonemia, type I	2020-01-08	no assertion criteria provided	clinical testing