Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000232143 | SCV000283114 | uncertain significance | Bloom syndrome | 2022-10-20 | 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 BLM protein function. ClinVar contains an entry for this variant (Variation ID: 236802). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 490 of the BLM protein (p.Pro490Arg). |
| Counsyl | RCV000232143 | SCV000798558 | uncertain significance | Bloom syndrome | 2018-03-13 | criteria provided, single submitter | clinical testing | |
| Mendelics | RCV002247670 | SCV002518146 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing |