Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469350 | SCV000544459 | pathogenic | Tuberous sclerosis 2 | 2016-08-08 | criteria provided, single submitter | clinical testing | This sequence change delete 7 nucleotide in exon 38 of the TSC2 mRNA (c.4951_4957delAATGACT), causing a frameshift at codon 1651. This creates a premature translational stop signal (p.Asn1651Profs*19) and is expected to result in an absent or disrupted protein product. 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). For these reasons, this variant has been classified as Pathogenic. |