Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667866 | SCV000792378 | uncertain significance | Congenital hyperammonemia, type I | 2017-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667866 | SCV000941863 | uncertain significance | Congenital hyperammonemia, type I | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with phenylalanine at codon 998 of the CPS1 protein (p.Ser998Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with CPS1 deficiency (PMID: 16737834, 20800523). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Natera, |
RCV000667866 | SCV001453727 | uncertain significance | Congenital hyperammonemia, type I | 2020-09-16 | no assertion criteria provided | clinical testing |