Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047125 | SCV001211061 | likely benign | Tuberous sclerosis 2 | 2023-08-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759768 | SCV001988597 | uncertain significance | not provided | 2019-04-22 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This substitution does not occur within known functional domains of the tuberin protein, where many pathogenic missense variants have been identified (Northrup et al., 2018; Au et al., 2007); Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV001047125 | SCV002040691 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451188 | SCV002736336 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-12-23 | criteria provided, single submitter | clinical testing | The p.H777R variant (also known as c.2330A>G), located in coding exon 20 of the TSC2 gene, results from an A to G substitution at nucleotide position 2330. The histidine at codon 777 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |