Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Statistics and Bioinformatics, |
RCV000024088 | SCV001437681 | pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP5 | |
Ce |
RCV001310932 | SCV001500922 | pathogenic | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | ZBTB24: PVS1, PM2, PM3 |
Invitae | RCV000024088 | SCV004294648 | pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 2023-12-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg320*) in the ZBTB24 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZBTB24 are known to be pathogenic (PMID: 21596365). This variant is present in population databases (rs387907104, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of ZBTB24-related conditions (PMID: 21596365, 30353301). ClinVar contains an entry for this variant (Variation ID: 31093). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000024088 | SCV000045379 | pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 2011-06-10 | no assertion criteria provided | literature only |