Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000994534 | SCV001148128 | uncertain significance | not provided | 2017-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000994534 | SCV002243673 | pathogenic | not provided | 2021-09-20 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 214 of the DEAF1 protein (p.Leu214Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. For these reasons, this variant has been classified as Pathogenic. 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 DEAF1 protein function. ClinVar contains an entry for this variant (Variation ID: 806590). This missense change has been observed in individual(s) with clinical features of autosomal dominant DEAF1-related conditions (PMID: 30923367). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). |