ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2870G>A (p.Arg957Gln) (rs371509136)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000167559 SCV000218439 likely benign not provided 2015-01-30 no assertion criteria provided clinical testing
GeneDx RCV000159484 SCV000209436 likely benign not specified 2016-04-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000701368 SCV000830168 uncertain significance Mowat-Wilson syndrome 2018-06-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 957 of the ZEB2 protein (p.Arg957Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs371509136, ExAC 0.02%). This variant has not been reported in the literature in individuals with ZEB2-related disease. ClinVar contains an entry for this variant (Variation ID: 181744). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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