Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001026112 | SCV001188431 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-10 | criteria provided, single submitter | clinical testing | The p.R239Q variant (also known as c.716G>A), located in coding exon 8 of the SMARCE1 gene, results from a G to A substitution at nucleotide position 716. The arginine at codon 239 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
| Labcorp Genetics |
RCV001862354 | SCV002303812 | uncertain significance | Familial meningioma | 2021-07-15 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 826882). This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 239 of the SMARCE1 protein (p.Arg239Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. |