Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810880 | SCV000951117 | benign | Tuberous sclerosis 2 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759564 | SCV001997687 | uncertain significance | not provided | 2020-01-08 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported previously in a large autism susceptibility study as a presumed benign variant, identified both in individuals with autism and the control population. No additional clinical information was provided (Kelleher et al., 2012); This variant is associated with the following publications: (PMID: 22558107) |
Genome- |
RCV000810880 | SCV002040733 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440748 | SCV002748378 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-09-21 | criteria provided, single submitter | clinical testing | The p.E973K variant (also known as c.2917G>A), located in coding exon 25 of the TSC2 gene, results from a G to A substitution at nucleotide position 2917. The glutamic acid at codon 973 is replaced by lysine, an amino acid with similar properties. This alteration was detected in a population of 290 individuals with non-syndromic autism as well as a population of 300 matched controls (Kelleher RJ et al. PLoS ONE, 2012 Apr;7:e35003). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002507412 | SCV002816515 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-05-04 | criteria provided, single submitter | clinical testing |