Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003626602 | SCV004437666 | uncertain significance | Tuberous sclerosis 2 | 2023-02-08 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change does not substantially affect TSC2 function (PMID: 22903760). 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. ClinVar contains an entry for this variant (Variation ID: 64869). This missense change has been observed in individual(s) with clinical features of tuberous sclerosis (PMID: 22903760). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1120 of the TSC2 protein (p.Val1120Glu). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 |
RCV000055069 | SCV000083287 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |