Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147153 | SCV000194516 | pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | 2013-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002512584 | SCV002967100 | pathogenic | not provided | 2023-06-05 | 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: 159623). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. This variant is present in population databases (rs768128082, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Leu1910Glyfs*29) 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). |