Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000512819 | SCV000609067 | pathogenic | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | PCNT: PVS1, PM2 |
Invitae | RCV000512819 | SCV003483900 | pathogenic | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg3236*) 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 (rs757793925, gnomAD 0.01%). 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: 444580). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003147495 | SCV003836411 | likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | 2022-03-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003392344 | SCV004118877 | likely pathogenic | PCNT-related condition | 2023-06-16 | criteria provided, single submitter | clinical testing | The PCNT c.9706C>T variant is predicted to result in premature protein termination (p.Arg3236*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47863728-C-T) and has been classified as pathogenic/likely pathogenic by multiple submitters in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/444580/). Nonsense variants in PCNT are expected to be pathogenic. This variant is interpreted as likely pathogenic. |