Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003842736 | SCV004641414 | uncertain significance | Retinoblastoma | 2022-11-02 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with RB1-related conditions. 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 RB1 protein function. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 717 of the RB1 protein (p.Ile717Thr). |
| Ambry Genetics | RCV004366913 | SCV005034557 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-22 | criteria provided, single submitter | clinical testing | The p.I717T variant (also known as c.2150T>C), located in coding exon 21 of the RB1 gene, results from a T to C substitution at nucleotide position 2150. The isoleucine at codon 717 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |