ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.993del (p.Phe331fs)

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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 RCV003641261 SCV004389153 pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe331Leufs*29) 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). 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.

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