ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3538C>G (p.Arg1180Gly)

dbSNP: rs756424812
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693787 SCV000821670 uncertain significance Mowat-Wilson syndrome 2022-03-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 572414). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This variant is present in population databases (rs756424812, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1180 of the ZEB2 protein (p.Arg1180Gly).
Baylor Genetics RCV000693787 SCV001527741 uncertain significance Mowat-Wilson syndrome 2018-08-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000693787 SCV002045619 uncertain significance Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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