Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686001 | SCV000813504 | likely pathogenic | Tuberous sclerosis 2 | 2019-06-17 | criteria provided, single submitter | clinical testing | 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. 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). This variant has been reported in the Leiden Open-source Variation Database (PMID: 21520333) in one individual affected with tuberous sclerosis and his/her parent, who displayed tooth pitting. This variant is not present in population databases (ExAC no frequency). This variant is a deletion of the genomic region encompassing part of exon 39 (c.5067_5068+8del) of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |