Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000818155 | SCV000958754 | uncertain significance | Retinoblastoma | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 230 of the RB1 protein (p.Ser230Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 660863). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RB1 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. |
| Ambry Genetics | RCV002363141 | SCV002666181 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-07-30 | criteria provided, single submitter | clinical testing | The p.S230L variant (also known as c.689C>T), located in coding exon 7 of the RB1 gene, results from a C to T substitution at nucleotide position 689. The serine at codon 230 is replaced by leucine, an amino acid with dissimilar 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. |
| Baylor Genetics | RCV004569737 | SCV005054149 | uncertain significance | Malignant tumor of urinary bladder | 2023-12-20 | criteria provided, single submitter | clinical testing |