Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002514461 | SCV003445133 | pathogenic | Ornithine carbamoyltransferase deficiency | 2022-08-20 | 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: 8112735). 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: 97326). This missense change has been observed in individual(s) with ornithine transcarbamylase deficiency (PMID: 8295401, 8365726, 10737985). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 264 of the OTC protein (p.Thr264Ala). |
Gen |
RCV000083573 | SCV000115659 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |