ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.1889C>T (p.Ser630Leu)

dbSNP: rs1776031803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248655 SCV001422160 uncertain significance Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2021-10-04 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 630 of the ZBTB24 protein (p.Ser630Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ZBTB24-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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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