Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037965 | SCV001201403 | uncertain significance | Tuberous sclerosis 2 | 2023-08-04 | 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: 836767). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is present in population databases (rs757274577, gnomAD 0.0009%). This sequence change affects codon 988 of the TSC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TSC2 protein. |
Ambry Genetics | RCV003380804 | SCV004098205 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-02 | criteria provided, single submitter | clinical testing | The c.2964C>T variant (also known as p.R988R), located in coding exon 25 of the TSC2 gene, results from a C to T substitution at nucleotide position 2964. This nucleotide substitution does not change the at codon 988. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |