Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002399063 | SCV002713638 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-22 | criteria provided, single submitter | clinical testing | The c.1057_1058delAG variant, located in coding exon 10 of the SMARCE1 gene, results from a deletion of two nucleotides at nucleotide positions 1057 to 1058, causing a translational frameshift with a predicted alternate stop codon (p.S353Pfs*5). This alteration occurs at the 3' terminus of theSMARCE1 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 59 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003097170 | SCV002943171 | uncertain significance | Familial meningioma | 2022-03-13 | 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser353Profs*5) in the SMARCE1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 59 amino acid(s) of the SMARCE1 protein. |