Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000336828 | SCV000329785 | pathogenic | not provided | 2016-06-17 | criteria provided, single submitter | clinical testing | The R897S variant has been reported previously as a de novo variant in a patient with tuberous sclerosis complex (Rendtorff et al., 2005). Functional studies suggest that F897S impairs TSC2 protein function (Rendtorff et al., 2005; Hoogeveen-Westerveld et al., 2011). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R897S 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. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, F897S is interpreted to be a pathogenic variant. |
Tuberous sclerosis database |
RCV000042856 | SCV000066652 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |