ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2204C>G (p.Pro735Arg)

gnomAD frequency: 0.00001  dbSNP: rs748324511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246263 SCV001419604 uncertain significance Mowat-Wilson syndrome 2023-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 735 of the ZEB2 protein (p.Pro735Arg). This variant is present in population databases (rs748324511, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 970657). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ZEB2 protein function. 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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