ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.971_972delinsAA (p.Cys324Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003641618 SCV004427728 pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2023-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ZBTB24-related conditions. For these reasons, this variant has been classified as Pathogenic. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Cys324*) 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).

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