Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001906747 | SCV002184256 | uncertain significance | Familial meningioma | 2021-09-20 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.913_915del, results in the deletion of 1 amino acid(s) of the SMARCE1 protein (p.Lys305del), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV002370499 | SCV002685620 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-03-27 | criteria provided, single submitter | clinical testing | The c.913_915delAAG variant (also known as p.K305del) is located in coding exon 9 of the SMARCE1 gene. This variant results from an in-frame AAG deletion at nucleotide positions 913 to 915. This results in the in-frame deletion of a lysine residue at codon 305. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV001906747 | SCV004205046 | uncertain significance | Familial meningioma | 2023-08-05 | criteria provided, single submitter | clinical testing |