ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.396_397del (p.His132fs)

dbSNP: rs1562305058
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Total submissions: 2
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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

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