ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)

gnomAD frequency: 0.00001  dbSNP: rs1490526407
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503717 SCV000598027 uncertain significance not specified 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV000556686 SCV000641874 benign Mowat-Wilson syndrome 2024-01-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000556686 SCV002045623 uncertain significance Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356811 SCV001552077 uncertain significance not provided no assertion criteria provided clinical testing The ZEB2 p.Thr809Ala variant was not identified in the literature nor was it identified in ClinVar, Cosmic, MutDB or LOVD 3.0. The variant was identified in dbSNP (ID: rs1490526407) and in control databases in 3 of 251276 chromosomes at a frequency of 0.000012 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following population: European (non-Finnish) in 3 of 113640 chromosomes (freq: 0.000026), but was not observed in the African, Latino, Ashkenazi Jewish, East Asian, European (Finnish), Other or South Asian populations. The c.2425A>G variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. The p.Thr809 residue is conserved in mammals, however four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM) do not suggest a high likelihood of impact to the protein. This information is not predictive enough to rule out pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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