Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001071926 | SCV001237259 | uncertain significance | Intellectual disability, autosomal dominant 5 | 2022-10-13 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 864681). This variant has not been reported in the literature in individuals affected with SYNGAP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the SYNGAP1 gene. It does not directly change the encoded amino acid sequence of the SYNGAP1 protein. |
| Ambry Genetics | RCV002554636 | SCV003737672 | likely pathogenic | Inborn genetic diseases | 2022-08-02 | criteria provided, single submitter | clinical testing | The c.1387-8G>A intronic alteration results from a G to A substitution 8 nucleotides before coding exon 9 in the SYNGAP1 gene. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. Based on the available evidence, this alteration is classified as likely pathogenic. |