Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002761705 | SCV003023361 | uncertain significance | Familial meningioma | 2022-05-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the SMARCE1 gene. It does not directly change the encoded amino acid sequence of the SMARCE1 protein. It affects a nucleotide within the consensus splice site. This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. |
Ambry Genetics | RCV004673717 | SCV005171224 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-22 | criteria provided, single submitter | clinical testing | The c.715-3C>G intronic variant results from a C to G substitution 3 nucleotides upstream from coding exon 8 in the SMARCE1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear. |