Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457917 | SCV000544343 | likely benign | Tuberous sclerosis 2 | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001017372 | SCV001178446 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-12 | criteria provided, single submitter | clinical testing | The p.L372P variant (also known as c.1115T>C), located in coding exon 10 of the TSC2 gene, results from a T to C substitution at nucleotide position 1115. The leucine at codon 372 is replaced by proline, an amino acid with similar properties. This amino acid position is not well 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. |
Genome- |
RCV000457917 | SCV002041131 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002244933 | SCV002512848 | uncertain significance | not provided | 2022-04-18 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18466115) |
Baylor Genetics | RCV003463864 | SCV004206857 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-09-01 | criteria provided, single submitter | clinical testing |