Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990791 | SCV001141829 | uncertain significance | Ornithine carbamoyltransferase deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000990791 | SCV002038577 | uncertain significance | Ornithine carbamoyltransferase deficiency | 2021-04-07 | criteria provided, single submitter | clinical testing | The OTC c.974C>T (p.Pro325Leu) variant is a missense variant. A literature search was conducted for the gene, cDNA change, and amino acid change. No publications were identified through this search. This variant is not found in version 2.1.1 or version 3.1.1 of the Genome Aggregation Database despite its location in a region of good sequencing coverage, which suggests the variant is rare. In silico tools differ in their predictions of the functional consequence of this variant. Based on the available evidence, the p.Pro325Leu variant is classified as a variant of uncertain significance for ornithine transcarbamylase deficiency. |