ClinVar Miner

Submissions for variant NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter)

dbSNP: rs1057518956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415113 SCV000493014 pathogenic Glaucoma; Visual loss; Posterior polymorphous corneal dystrophy 2014-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000599440 SCV000709986 pathogenic not provided 2021-11-08 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Chung et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25190660, 27537263, 17935237, 19337156, 25525159)
CeGaT Center for Human Genetics Tuebingen RCV000599440 SCV004033039 pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing ZEB1: PVS1, PM2, PS3:Supporting

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