ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.958C>T (p.Arg320Ter)

gnomAD frequency: 0.00003  dbSNP: rs387907104
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000024088 SCV001437681 pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2 criteria provided, single submitter clinical testing PVS1, PM2, PP5
CeGaT Center for Human Genetics Tuebingen RCV001310932 SCV001500922 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing ZBTB24: PVS1, PM2, PM3
Invitae RCV000024088 SCV004294648 pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2023-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg320*) 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 (rs387907104, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of ZBTB24-related conditions (PMID: 21596365, 30353301). ClinVar contains an entry for this variant (Variation ID: 31093). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024088 SCV000045379 pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2011-06-10 no assertion criteria provided literature only

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