Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000033203 | SCV004294652 | pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 2023-04-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 40181). This premature translational stop signal has been observed in individual(s) with immunodeficiency-centromeric instability-facial anomalies syndrome (PMID: 21906047). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.His132Glnfs*20) 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). |
OMIM | RCV000033203 | SCV000057049 | pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 2012-11-01 | no assertion criteria provided | literature only |