Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462786 | SCV000544398 | pathogenic | Tuberous sclerosis 2 | 2016-08-20 | criteria provided, single submitter | clinical testing | 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). This sequence change deletes 1 nucleotide from exon 19 of the TSC2 mRNA (c.2009delC), causing a frameshift at codon 670. This creates a premature translational stop signal (p.Pro670Leufs*28) and is expected to result in an absent or disrupted protein product. |