Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000083434 | SCV000230943 | pathogenic | not provided | 2015-05-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000011734 | SCV000894489 | pathogenic | Ornithine carbamoyltransferase deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000011734 | SCV001212429 | pathogenic | Ornithine carbamoyltransferase deficiency | 2022-10-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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: 10987). This variant is also known as Arg109Gln. This missense change has been observed in individuals with ornithine transcarbamylase deficiency (PMID: 3170748, 8830175, 8985493, 30175132). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 141 of the OTC protein (p.Arg141Gln). |
Gene |
RCV000083434 | SCV001802043 | pathogenic | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing | Published functional studies that R141Q is associated with significantly reduced OTC activity compared to wild-type (Lee et al., 1989; Augustin et al., 2000).; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33272297, 31589614, 28324312, 8985493, 8830175, 17044854, 1757964, 3170748, 1627356, 2556444, 11102556, 30175132) |
Genome- |
RCV000011734 | SCV002033219 | pathogenic | Ornithine carbamoyltransferase deficiency | 2021-11-07 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000011734 | SCV000031966 | pathogenic | Ornithine carbamoyltransferase deficiency | 1992-06-01 | no assertion criteria provided | literature only | |
Gen |
RCV000083434 | SCV000115520 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |