Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000083455 | SCV000517320 | pathogenic | not provided | 2015-05-22 | criteria provided, single submitter | clinical testing | The N161S missense variant in the OTC gene has been reported previously in associationwith OTC deficiency (Tuchman and Plante, 1995; Lipskind et al. 2011). Approximately20% of females who are heterozygous for variants in the OTC gene are clinicallysymptomatic with disease severity similar to males with partial deficiency (Yamaguchi etal., 2006; Tuchman et al., 2002). Therefore, we interpret the N161S variant as pathogenic. |
Invitae | RCV000793302 | SCV000932650 | pathogenic | Ornithine carbamoyltransferase deficiency | 2023-04-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects OTC function (PMID: 17041896). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt OTC protein function. ClinVar contains an entry for this variant (Variation ID: 97216). This missense change has been observed in individual(s) with ornithine transcarbamylase deficiency (PMID: 8786061, 11388595, 12083811, 21956151, 25994866). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 161 of the OTC protein (p.Asn161Ser). |
Genome- |
RCV000793302 | SCV002033220 | pathogenic | Ornithine carbamoyltransferase deficiency | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gen |
RCV000083455 | SCV000115541 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |