Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473256 | SCV000544411 | pathogenic | Tuberous sclerosis 2 | 2016-07-09 | criteria provided, single submitter | clinical testing | This sequence change deletes 2 nucleotides from exon 22 of the TSC2 mRNA (c.2539_2540delCT), causing a frameshift at codon 847. This creates a premature translational stop signal (p.Leu847Valfs*35) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). |