ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2613T>G (p.Asn871Lys)

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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 RCV005112067 SCV005735915 uncertain significance Mowat-Wilson syndrome 2024-02-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 871 of the ZEB2 protein (p.Asn871Lys). This variant is present in population databases (rs760849906, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt ZEB2 function with a negative predictive value of 95%. 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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