Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634843 | SCV000756191 | likely pathogenic | Ornithine carbamoyltransferase deficiency | 2017-09-25 | criteria provided, single submitter | clinical testing | Family studies have indicated that this variant was not present in the parents of an individual with OTC deficiency, which suggests that it was de novo in that affected individual (Invitae). This variant has also been reported in an individual affected with OTC deficiency or with a possible diagnosis of OTC deficiency (PMID: 11117428). ClinVar contains an entry for this variant (Variation ID: 97270). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 205 of the OTC protein (p.Met205Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. |
Gen |
RCV000083512 | SCV000115598 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |