Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201172 | SCV000255916 | pathogenic | Tuberous sclerosis 2 | 2014-11-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000201172 | SCV000820228 | likely pathogenic | Tuberous sclerosis 2 | 2018-02-15 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 41 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with tuberous sclerosis complex (PMID: 17304050). ClinVar contains an entry for this variant (Variation ID: 49417). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Genome- |
RCV000201172 | SCV002041032 | likely pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042677 | SCV000066472 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |