Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521160 | SCV000621504 | uncertain significance | not provided | 2017-10-12 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the TSC2 gene. The P1267S variant has notbeen published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P1267S variant is observed in 2/245,356 (0.0008%) alleles in large population cohorts (Lek el al., 2016). The P1267S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Additionally, this substitution does not occur within known functional domains of the tuberin protein, where many pathogenic missense variants have been identified (Northrup et al., 2011; Au et al., 2007). Therefore, based onthe currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV000644179 | SCV000765869 | benign | Tuberous sclerosis 2 | 2022-12-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000644179 | SCV002040788 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |