Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590045 | SCV000697251 | uncertain significance | not provided | 2016-11-16 | criteria provided, single submitter | clinical testing | Variant summary: The OTC c.608C>T (p.Ser203Phe) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 87525 control chromosomes and has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Rady Children's Institute for Genomic Medicine, |
RCV001089878 | SCV001984799 | likely pathogenic | Ornithine carbamoyltransferase deficiency | 2020-09-07 | criteria provided, single submitter | clinical testing | This variant has not been previously reported or functionally characterized in the literature to our knowledge. However, a different variant affecting the same amino acid residue, c.608C>G (p.Ser203Cys), has been previously reported in an individual with Ornithine Transcarbamylase (OTC) Deficiency (PMID: 8019569). It is absent from the gnomAD population database and thus is presumed to be rare. The c.608C>T (p.Ser203Phe) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.608C>T (p.Ser203Phe) variant is classified as Likely Pathogenic. |
Genome- |
RCV001089878 | SCV002033198 | uncertain significance | Ornithine carbamoyltransferase deficiency | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Molecular Genetics laboratory, |
RCV001089878 | SCV001197273 | pathogenic | Ornithine carbamoyltransferase deficiency | no assertion criteria provided | clinical testing | 1 boy with a neonatal form |