ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1426A>C (p.Met476Leu)

gnomAD frequency: 0.00002  dbSNP: rs778246270
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642265 SCV000763926 uncertain significance Mowat-Wilson syndrome 2023-08-02 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 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. ClinVar contains an entry for this variant (Variation ID: 534642). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This variant is present in population databases (rs778246270, gnomAD 0.01%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 476 of the ZEB2 protein (p.Met476Leu).

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