Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460123 | SCV000544415 | uncertain significance | Tuberous sclerosis 2 | 2021-12-04 | 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 406023). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is present in population databases (rs748932830, gnomAD 0.006%). This sequence change falls in intron 2 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. |