Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720211 | SCV000525239 | likely benign | not provided | 2019-07-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001223399 | SCV001395548 | uncertain significance | Tuberous sclerosis 2 | 2023-09-10 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 24 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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). ClinVar contains an entry for this variant (Variation ID: 384425). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. |
Genome- |
RCV001223399 | SCV002039682 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |