ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp)

dbSNP: rs1553960775
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642256 SCV000763916 uncertain significance Mowat-Wilson syndrome 2021-02-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ZEB2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with aspartic acid at codon 1089 of the ZEB2 protein (p.Glu1089Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678856 SCV000805049 uncertain significance Lennox-Gastaut syndrome 2016-12-08 no assertion criteria provided clinical testing

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