ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3161_3162del (p.Pro1054fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985240 SCV004801618 pathogenic Mowat-Wilson syndrome 2020-04-23 criteria provided, single submitter clinical testing The ZEB2 c.3161_3162delCC p.(Pro1054LeufsTer4) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein but occurs in the last exon of the gene and the resulting transcript may escape nonsense-mediated mRNA decay. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. The variant was identified in a de novo state in the proband. Based on the predicted truncating nature of the variant, absence from gnomAD, and identification in a de novo state in the proband, the available evidence the c.3161_3162delCC p.(Pro1054LeufsTer4) variant is classified as pathogenic for Mowat-Wilson syndrome.

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