Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231818 | SCV000285292 | pathogenic | Tuberous sclerosis 2 | 2016-01-29 | criteria provided, single submitter | clinical testing | This sequence change deletes 33 nucleotides and inserts 1 nucleotide in exon 22 of the TSC2 mRNA (c.2429_2461delinsC), causing a frameshift at codon 810. This creates a premature translational stop signal (p.Ile810Lysfs*62) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic. |