ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2425G>T (p.Glu809Ter)

dbSNP: rs1703265228
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249622 SCV001423695 pathogenic Mowat-Wilson syndrome 2018-01-22 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PS2, PM2, PP3] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2], is predicted to be damaging by multiple functional prediction tools [PP3].

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