Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000622273 | SCV000742832 | uncertain significance | Inborn genetic diseases | 2017-08-03 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002531912 | SCV003199208 | uncertain significance | not provided | 2022-05-14 | criteria provided, single submitter | clinical testing | 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 521998). This variant has not been reported in the literature in individuals affected with DEAF1-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 297 of the DEAF1 protein (p.Phe297Ser). |
| Gene |
RCV002531912 | SCV003840612 | pathogenic | not provided | 2023-03-07 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate F297S results in a dominant-negative effect (McGee et al., 2023); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35981081) |