Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734958 | SCV000863140 | pathogenic | not provided | 2018-08-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000024089 | SCV003836410 | pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 2022-03-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000024089 | SCV004294653 | pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser16*) 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 (rs370370334, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with immunodeficiency-centromeric instability-facial anomalies syndrome (PMID: 21596365). ClinVar contains an entry for this variant (Variation ID: 598541). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000024089 | SCV000045380 | pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 2011-06-10 | no assertion criteria provided | literature only |