ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.314C>G (p.Ala105Gly)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002582838 SCV002936371 uncertain significance Mowat-Wilson syndrome 2022-10-21 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 105 of the ZEB2 protein (p.Ala105Gly). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. 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.
Ambry Genetics RCV002570893 SCV003602249 uncertain significance Inborn genetic diseases 2022-02-09 criteria provided, single submitter clinical testing The c.314C>G (p.A105G) alteration is located in exon 3 (coding exon 2) of the ZEB2 gene. This alteration results from a C to G substitution at nucleotide position 314, causing the alanine (A) at amino acid position 105 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481316 SCV004224956 uncertain significance not provided 2021-11-29 criteria provided, single submitter clinical testing

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