ClinVar Miner

Submissions for variant NM_001174096.2(ZEB1):c.1579dup (p.Val527fs)

dbSNP: rs766305306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499953 SCV000598016 pathogenic Corneal dystrophy 2016-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558417 SCV004295652 pathogenic not provided 2023-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val526Glyfs*3) in the ZEB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZEB1 are known to be pathogenic (PMID: 16252232, 17935237, 30851240). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with posterior polymorphous corneal dystrophy (PMID: 25441224, 30851240). ClinVar contains an entry for this variant (Variation ID: 437319). For these reasons, this variant has been classified as Pathogenic.

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