Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV001027850 | SCV001190474 | likely pathogenic | Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 | 2021-03-30 | criteria provided, single submitter | clinical testing | TCF4 NM_001083962.1 exon 14 p.Asn374* (c.1118dupC): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant creates a premature stop at this codon which is predicted to result in an absent or abnormal protein. Loss of function (LOF) variants are a known mechanism of disease for this gene (Whalen 2011 PMID:22045651, Sepp 2012 PMID:22460224). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic. |