ClinVar Miner

Submissions for variant NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)

gnomAD frequency: 0.01629  dbSNP: rs80194531
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000971012 SCV001118626 benign not provided 2023-10-08 criteria provided, single submitter clinical testing
Mendelics RCV000013468 SCV001138015 benign Corneal dystrophy, Fuchs endothelial, 6 2023-12-24 criteria provided, single submitter clinical testing
H3Africa Consortium RCV001777136 SCV002014660 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.083, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
PreventionGenetics, part of Exact Sciences RCV003982838 SCV004796454 likely benign ZEB1-related disorder 2022-05-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000013468 SCV000033715 pathogenic Corneal dystrophy, Fuchs endothelial, 6 2010-01-01 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000013468 SCV001142408 benign Corneal dystrophy, Fuchs endothelial, 6 2020-01-06 no assertion criteria provided curation The ZEB1 gene is known as TCF8 in the published literature (PMID: 20036349). TCF8NM_030751.5:c.233A>C in the ZEB1 gene has an allele frequency of 0.052 in African subpopulation in the gnomAD database. 30 homozygous occurrences are observed in the gnomAD database. Since the Fuchs Corneal Dystrophy was reported as Late-Onset, we determined to not apply the number of homozygousity as a strong benign evidence. In addition, Riazuddin et al. reported a patient with Late-Onset Fuchs Corneal Dystrophy barboring p.N78T (PMID: 20036349). These evidence suggest the variant to be classified as benign. ACMG/AMP criteria applied: BA1.

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