ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val)

dbSNP: rs1360979536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002181513 SCV002486693 benign Mowat-Wilson syndrome 2021-07-12 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV002181513 SCV004100651 uncertain significance Mowat-Wilson syndrome criteria provided, single submitter clinical testing The missense variant p.I1179V in ZEB2 (NM_014795.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The missense variant c.3535A>G (p.I1179V) in ZEB2 (NM_014795.4) is observed in 1/30616 (0.0033%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. For these reasons, this variant has been classified as Uncertain Significance.

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