Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
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 | 2019-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 141 of the OTC protein (p.Arg141Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with ornithine transcarbamylase deficiency in several individuals and families (PMID: 3170748, 8830175, 8985493, 30175132). This variant is also known as Arg109Gln in the literature. ClinVar contains an entry for this variant (Variation ID: 10987). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic. |
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. |