Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707498 | SCV000836599 | uncertain significance | Congenital hyperammonemia, type I | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 238 of the CPS1 protein (p.Arg238Gln). This variant is present in population databases (rs147294932, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with CPS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 583220). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Gene |
RCV001570243 | SCV001794500 | uncertain significance | not provided | 2021-07-19 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Missense variants in nearby residues reported in the Human Gene Mutation Database (Stenson et al., 2014) |
Ambry Genetics | RCV002532878 | SCV003713105 | uncertain significance | Inborn genetic diseases | 2021-06-16 | criteria provided, single submitter | clinical testing | The c.713G>A (p.R238Q) alteration is located in exon 8 (coding exon 8) of the CPS1 gene. This alteration results from a G to A substitution at nucleotide position 713, causing the arginine (R) at amino acid position 238 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000707498 | SCV002076212 | uncertain significance | Congenital hyperammonemia, type I | 2020-02-21 | no assertion criteria provided | clinical testing |