ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.9G>C (p.Gln3His)

dbSNP: rs149882004
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000417401 SCV000195509 benign not specified 2016-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000417401 SCV000209409 benign not specified 2016-04-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000558793 SCV000641891 benign Mowat-Wilson syndrome 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316956 SCV000851366 uncertain significance Inborn genetic diseases 2016-12-02 criteria provided, single submitter clinical testing The p.Q3H variant (also known as c.9G>C), located in coding exon 1 of the ZEB2 gene, results from a G to C substitution at nucleotide position 9. The glutamine at codon 3 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on data from ExAC, the C allele has an overall frequency of approximately 0.034% (36/105,942) total alleles studied (TCGA excluded). The highest observed frequency was 0.216% (17/7,854) of East Asian alleles. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000558793 SCV002045617 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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