Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064676 | SCV001229589 | likely pathogenic | Ornithine carbamoyltransferase deficiency | 2019-11-18 | criteria provided, single submitter | clinical testing | 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 has been observed in individual(s) with ornithine transcarbamylase deficiency (PMID: 20458665, 19138872, 17334707). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 97107). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glycine at codon 41 of the OTC protein (p.Asp41Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. |
Gen |
RCV000083334 | SCV000115420 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |