ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.1205-7C>T

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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 RCV002654400 SCV002986875 uncertain significance Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2022-06-22 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the ZBTB24 gene. It does not directly change the encoded amino acid sequence of the ZBTB24 protein. This variant is present in population databases (rs755100372, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ZBTB24-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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