ClinVar Miner

Submissions for variant NM_014797.2(ZBTB24):c.1750A>T (p.Met584Leu) (rs139491074)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649285 SCV000771111 uncertain significance Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2018-12-15 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 584 of the ZBTB24 protein (p.Met584Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine. This variant is present in population databases (rs139491074, ExAC 0.1%). This variant has not been reported in the literature in individuals with ZBTB24-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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