Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000002526 | SCV001821449 | likely pathogenic | Congenital hyperammonemia, type I | 2021-08-31 | criteria provided, single submitter | clinical testing | Variant summary: CPS1 c.2945G>A (p.Gly982Asp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251064 control chromosomes. c.2945G>A has been reported in the literature in individuals affected with Carbamoylphosphate Synthetase I Deficiency (Kurokawa_2007, Wang_2011, Ikeri_2020, Haberle_2011). These data indicate that the variant is likely to be associated with disease. Additionally, other variants at the same codon have been reported in association with Carbamoylphosphate Synthetase I Deficiency (p.Gly982Ser, p.Gly982Val), suggesting the importance of this amino acid. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| OMIM | RCV000002526 | SCV000022684 | pathogenic | Congenital hyperammonemia, type I | 2007-01-01 | no assertion criteria provided | literature only | |
| Natera, |
RCV000002526 | SCV002076254 | likely pathogenic | Congenital hyperammonemia, type I | 2021-06-17 | no assertion criteria provided | clinical testing |