Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813207 | SCV000953552 | likely pathogenic | Tuberous sclerosis 2 | 2018-10-22 | 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. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has not been reported in the literature in individuals with TSC2-related disease. This variant is not present in population databases (ExAC no frequency). This variant is a gross deletion of the genomic region encompassing part of exon 4 (c.335_336+14del) of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |