ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.376A>G (p.Thr126Ala)

dbSNP: rs377645525
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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 RCV001210660 SCV001382157 uncertain significance Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2022-07-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 940969). This variant has not been reported in the literature in individuals affected with ZBTB24-related conditions. This variant is present in population databases (rs377645525, gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 126 of the ZBTB24 protein (p.Thr126Ala). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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