Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198048 | SCV001368833 | likely pathogenic | Epileptic encephalopathy, infantile or early childhood, 1 | 2019-04-03 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. |
3billion | RCV002283526 | SCV002572574 | pathogenic | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been previously reported as de novo in a similarly affected individual (PMID: 30904718). The variant has been reported to be associated with PPP3CA -related disorder (ClinVar ID: VCV000931475 / PMID: 30904718). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
Ce |
RCV002512144 | SCV002821259 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | PPP3CA: PVS1, PS2, PM2 |