ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2113T>G (p.Ser705Ala)

dbSNP: rs1361274533
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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 RCV002024937 SCV002308483 uncertain significance Mowat-Wilson syndrome 2021-10-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with alanine at codon 705 of the ZEB2 protein (p.Ser705Ala). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and alanine. 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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