Submissions for variant NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)

gnomAD frequency: 0.00001  dbSNP: rs778117194

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000665179	SCV000789252	uncertain significance	Congenital hyperammonemia, type I	2017-01-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000665179	SCV000826069	likely benign	Congenital hyperammonemia, type I	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000665179	SCV001298309	uncertain significance	Congenital hyperammonemia, type I	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000665179	SCV001428984	likely pathogenic	Congenital hyperammonemia, type I	2017-12-21	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000665179	SCV001453731	uncertain significance	Congenital hyperammonemia, type I	2020-09-16	no assertion criteria provided	clinical testing