Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001361207 | SCV001557173 | uncertain significance | Familial meningioma | 2020-01-14 | 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SMARCE1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with lysine at codon 113 of the SMARCE1 protein (p.Gln113Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. |
| Ambry Genetics | RCV004951607 | SCV005509955 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-09-23 | criteria provided, single submitter | clinical testing | The p.Q113K variant (also known as c.337C>A), located in coding exon 5 of the SMARCE1 gene, results from a C to A substitution at nucleotide position 337. The glutamine at codon 113 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |