ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.295_297AAC[1] (p.Asn100del) (rs587776610)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490485 SCV000267566 uncertain significance Mowat-Wilson syndrome 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000490485 SCV001390786 uncertain significance Mowat-Wilson syndrome 2019-07-22 criteria provided, single submitter clinical testing This variant, c.298_300del, results in the deletion of 1 amino acid(s) of the ZEB2 protein (p.Asn100del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs587776610, ExAC 0.05%). This variant has been observed in an individual with mild clinical features of ZEB2-related conditions (PMID: 12451214). ClinVar contains an entry for this variant (Variation ID: 4764). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.
OMIM RCV000005030 SCV000025206 pathogenic Hirschsprung disease-mental retardation syndrome, late infantile 2002-11-26 no assertion criteria provided literature only

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