ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2752C>T (p.Pro918Ser)

dbSNP: rs1560605894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997210 SCV001152412 likely benign not provided 2018-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003413791 SCV004108748 uncertain significance ZEB2-related disorder 2023-01-04 criteria provided, single submitter clinical testing The ZEB2 c.2752C>T variant is predicted to result in the amino acid substitution p.Pro918Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-145156002-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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