ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1877G>A (p.Gly626Glu)

gnomAD frequency: 0.00001  dbSNP: rs794727923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180323 SCV000232734 uncertain significance not provided 2015-01-12 criteria provided, single submitter clinical testing
Invitae RCV000542525 SCV000641867 uncertain significance Mowat-Wilson syndrome 2022-09-28 criteria provided, single submitter clinical testing This variant is present in population databases (rs794727923, gnomAD 0.003%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ZEB2 protein function. ClinVar contains an entry for this variant (Variation ID: 198863). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 626 of the ZEB2 protein (p.Gly626Glu).
Genome-Nilou Lab RCV000542525 SCV002045628 uncertain significance Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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