Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001350817 | SCV001545236 | uncertain significance | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2023-04-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1046278). This missense change has been observed in individual(s) with clinical features of RUNX1-related conditions (PMID: 34166225). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 441 of the RUNX1 protein (p.Leu441Arg). 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 RUNX1 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. |
Baylor Genetics | RCV003469586 | SCV004209863 | uncertain significance | Acute myeloid leukemia | 2023-07-12 | criteria provided, single submitter | clinical testing |