ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.944G>C (p.Ser315Thr)

gnomAD frequency: 0.00002  dbSNP: rs558624893
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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 RCV001296489 SCV001485455 uncertain significance Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2024-12-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 315 of the ZBTB24 protein (p.Ser315Thr). This variant is present in population databases (rs558624893, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ZBTB24-related conditions. ClinVar contains an entry for this variant (Variation ID: 1000367). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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