Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001347706 | SCV001541979 | uncertain significance | Welander distal myopathy | 2023-08-01 | criteria provided, single submitter | clinical testing | 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. 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 not expected to disrupt TIA1 protein function. ClinVar contains an entry for this variant (Variation ID: 1043578). This variant has not been reported in the literature in individuals affected with TIA1-related conditions. This variant is present in population databases (rs763253859, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 228 of the TIA1 protein (p.Gln228Leu). |
| Gene |
RCV003156340 | SCV003845551 | uncertain significance | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30982635) |