ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2714C>T (p.Pro905Leu)

gnomAD frequency: 0.00001  dbSNP: rs1255855620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819397 SCV002067582 uncertain significance not specified 2018-10-19 criteria provided, single submitter clinical testing
Invitae RCV003611561 SCV004533203 uncertain significance Mowat-Wilson syndrome 2023-08-29 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 1336911). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 905 of the ZEB2 protein (p.Pro905Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions.

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