Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003555918 | SCV004298827 | pathogenic | not provided | 2023-04-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2918*) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 4710). This premature translational stop signal has been observed in individual(s) with primordial dwarfism (PMID: 18174396). |
OMIM | RCV000004975 | SCV000025151 | pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | 2008-02-08 | no assertion criteria provided | literature only |