Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001935034 | SCV002174522 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2021-11-16 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SMARCA4-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 glutamine, which is neutral and polar, at codon 153 of the SMARCA4 protein (p.Pro153Gln). |
| Ambry Genetics | RCV004946849 | SCV005508083 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-11-15 | criteria provided, single submitter | clinical testing | The p.P153Q variant (also known as c.458C>A), located in coding exon 3 of the SMARCA4 gene, results from a C to A substitution at nucleotide position 458. The proline at codon 153 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |