Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147229 | SCV000194598 | pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | 2014-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003718123 | SCV004518151 | pathogenic | not provided | 2023-11-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala2957Cysfs*46) 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). This variant is present in population databases (rs772244623, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. ClinVar contains an entry for this variant (Variation ID: 159677). For these reasons, this variant has been classified as Pathogenic. |