ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2619_2620delinsAT (p.Asn873_Asn874delinsLysTyr)

dbSNP: rs1703261977
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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 RCV001051671 SCV001215839 uncertain significance Mowat-Wilson syndrome 2022-05-26 criteria provided, single submitter clinical testing This variant, c.2619_2620delinsAT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the ZEB2 protein (p.Asn873_Asn874delinsLysTyr). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has been observed in individual(s) with clinical features of ZEB2-related conditions and/or refractory epilepsy (Invitae). ClinVar contains an entry for this variant (Variation ID: 848011). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.

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