Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003770413 | SCV004640875 | uncertain significance | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 251 of the THBD protein (p.Gly251Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with THBD related conditions (PMID: 32935436). ClinVar contains an entry for this variant (Variation ID: 988850). 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 THBD protein function with a positive predictive value of 80%. 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. |
| Birmingham Platelet Group; University of Birmingham | RCV001270556 | SCV001450855 | likely pathogenic | Abnormal bleeding; Thrombocytopenia | 2020-05-01 | no assertion criteria provided | research |