Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001362788 | SCV001558824 | uncertain significance | Tuberous sclerosis 2 | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 984 of the TSC2 protein (p.Glu984Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 23514105). ClinVar contains an entry for this variant (Variation ID: 65212). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Tuberous sclerosis database |
RCV000055430 | SCV000083651 | not provided | Autism spectrum disorder | no assertion provided | curation |