Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145925 | SCV000193062 | likely pathogenic | Chondrodysplasia punctata 2 X-linked dominant | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002512575 | SCV003445227 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with Conradi-Hünermann-Happle syndrome (PMID: 24915996, 29851033). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EBP protein function. ClinVar contains an entry for this variant (Variation ID: 158533). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 68 of the EBP protein (p.Trp68Cys). |