ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1471A>T (p.Met491Leu)

dbSNP: rs1294703110
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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 RCV001069153 SCV001234302 uncertain significance Mowat-Wilson syndrome 2023-01-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 862431). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 491 of the ZEB2 protein (p.Met491Leu). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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