Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000024090 | SCV004294649 | pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 2023-02-05 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 31095). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with immunodeficiency-centromeric instability-facial anomalies syndrome (PMID: 21596365). This sequence change creates a premature translational stop signal (p.Ser278*) 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 not present in population databases (gnomAD no frequency). |
OMIM | RCV000024090 | SCV000045381 | pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 2011-06-10 | no assertion criteria provided | literature only |