Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171353 | SCV000221550 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
3billion | RCV002051822 | SCV002318552 | pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | 2022-03-22 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): 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. This variant has been reported as pathogenic (ClinVar ID: VCV000191168, PMID:27124789). It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Invitae | RCV000171353 | SCV004284154 | pathogenic | not provided | 2023-05-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 191168). This premature translational stop signal has been observed in individual(s) with PCNT-related conditions (PMID: 30214071). This variant is present in population databases (rs151020551, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg792*) in the PCNT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCNT are known to be pathogenic (PMID: 18174396, 22821869). |