Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000638918 | SCV000760473 | uncertain significance | Familial meningioma | 2023-04-27 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. This variant is present in population databases (rs746320191, gnomAD 0.02%). This sequence change affects codon 123 of the SMARCE1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SMARCE1 protein. This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon. ClinVar contains an entry for this variant (Variation ID: 532241). 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). RNA analysis performed to evaluate the impact of this variant on mRNA splicing indicates it does not significantly alter splicing (Invitae). |
| Ambry Genetics | RCV002343255 | SCV002621295 | likely benign | Hereditary cancer-predisposing syndrome | 2020-07-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Gene |
RCV003106010 | SCV003761920 | uncertain significance | not provided | 2022-07-28 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |
| Baylor Genetics | RCV000638918 | SCV005052826 | uncertain significance | Familial meningioma | 2023-12-17 | criteria provided, single submitter | clinical testing |