ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.442GTT[1] (p.Val149del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002961209 SCV003677025 uncertain significance Inborn genetic diseases 2022-03-15 criteria provided, single submitter clinical testing The c.445_447delGTT (p.V149del) alteration is located in exon 2 (coding exon 1) of the ZBTB24 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.445 and c.447, resulting in the deletion of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003111727 SCV003789221 uncertain significance Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2022-04-15 criteria provided, single submitter clinical testing This variant, c.445_447del, results in the deletion of 1 amino acid(s) of the ZBTB24 protein (p.Val149del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs749390499, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ZBTB24-related conditions. 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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