Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470038 | SCV000552339 | benign | Tuberous sclerosis 1 | 2023-12-08 | criteria provided, single submitter | clinical testing | |
St. |
RCV000761012 | SCV000890927 | uncertain significance | Craniopharyngioma | 2016-07-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001011148 | SCV001171437 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-11-02 | criteria provided, single submitter | clinical testing | The p.G452A variant (also known as c.1355G>C), located in coding exon 12 of the TSC1 gene, results from a G to C substitution at nucleotide position 1355. The glycine at codon 452 is replaced by alanine, an amino acid with similar properties. In a study of whole-exome sequencing in patients with features of Cowden syndrome (CS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS) and negative PTEN testing, this alteration was identified in 0/87 patients with CS or BRRS and 1/3476 patients from The Cancer Genome Atlas (TCGA) (Yehia L et al. PLoS Genet, 2018 04;14:e1007352). This amino acid position is 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. |
Gene |
RCV001591099 | SCV001825884 | likely benign | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000470038 | SCV002040109 | likely benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing |