Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484317 | SCV000566310 | pathogenic | not provided | 2017-08-02 | criteria provided, single submitter | clinical testing | The c.133_136delCTGA deletion in the TSC2 gene has been reported multiple times in association withtuberous sclerosis complex (TSC) (Hung et al., 2006; TSC2 LOVD). The deletion causes a frameshift starting with codon Leucine 45, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Leu45GlufsX3. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret c.133_136delCTGA as a pathogenic variant. |
Invitae | RCV000554425 | SCV000644229 | pathogenic | Tuberous sclerosis 2 | 2017-03-15 | criteria provided, single submitter | clinical testing | This sequence change deletes 4 nucleotides from exon 2 of the TSC2 mRNA (c.133_136delCTGA), causing a frameshift at codon 45. This creates a premature translational stop signal (p.Leu45Glufs*3) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic. This particular variant has been reported in individuals affected with tuberous sclerosis complex (PMID: 16981987, 21510812). For these reasons, this variant has been classified as Pathogenic. |
Tuberous sclerosis database |
RCV000042406 | SCV000066196 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |