Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV001249000 | SCV001422844 | uncertain significance | not specified | 2020-01-22 | criteria provided, single submitter | curation | The p.Gln29Glu variant in OTC has not been previously reported in individuals with Ornithine transcarbamylase deficiency but has been identified in 0.05124% (14/27320) of Latino chromosomes, including 3 hemizygotes, and 0.001232% (1/81172) of European (non-Finnish) chromosomes, including 1 hemizygote, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs752916728). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Gln29Glu variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: BS1 (Richards 2015). |
Invitae | RCV001511499 | SCV001718760 | benign | Ornithine carbamoyltransferase deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002447234 | SCV002676374 | likely benign | Inborn genetic diseases | 2022-06-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV001511499 | SCV002087159 | likely benign | Ornithine carbamoyltransferase deficiency | 2021-08-18 | no assertion criteria provided | clinical testing |