ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2516C>G (p.Ala839Gly)

gnomAD frequency: 0.00001  dbSNP: rs757845450
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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 RCV001297517 SCV001486540 uncertain significance Mowat-Wilson syndrome 2022-04-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 839 of the ZEB2 protein (p.Ala839Gly). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 1001252). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This variant is present in population databases (rs757845450, gnomAD 0.004%).

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