ClinVar Miner

Submissions for variant NC_000002.11:g.(?_145147569)_(145148922_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003116773 SCV003792985 uncertain significance Mowat-Wilson syndrome 2021-12-15 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 10 (c.3068-1327_3094del) of the ZEB2 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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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