ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.833C>G (p.Ser278Ter)

dbSNP: rs1582683374
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Total submissions: 2
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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

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