Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017831 | SCV001178985 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-27 | criteria provided, single submitter | clinical testing | The p.A998S variant (also known as c.2992G>T), located in coding exon 26 of the TSC2 gene, results from a G to T substitution at nucleotide position 2992. The alanine at codon 998 is replaced by serine, an amino acid with similar properties. In a cohort of 300 deceased patients, who underwent whole genome sequencing for 60 autosomal dominant cancer predisposition genes, this variant was detected and classified as uncertain significance by the authors. However, the specific phenotype of the patient(s) with this alteration was not reported (He KY et al. PLoS One, 2016 Dec;11:e0167847). 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. |
Invitae | RCV001239016 | SCV001411861 | benign | Tuberous sclerosis 2 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001239016 | SCV002040738 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001805973 | SCV002050526 | uncertain significance | not provided | 2021-06-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533) |
Baylor Genetics | RCV003461364 | SCV004204517 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-10-27 | criteria provided, single submitter | clinical testing |