ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2093A>G (p.Tyr698Cys)

dbSNP: rs780113721
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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 RCV001312697 SCV001503161 uncertain significance Mowat-Wilson syndrome 2022-11-07 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. 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 expected to disrupt ZEB2 protein function. ClinVar contains an entry for this variant (Variation ID: 1014021). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This variant is present in population databases (rs780113721, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 698 of the ZEB2 protein (p.Tyr698Cys).
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697106 SCV005199018 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing

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