Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189956 | SCV000243627 | likely benign | not specified | 2014-02-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000233520 | SCV000285338 | likely benign | Tuberous sclerosis 2 | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000233520 | SCV001481478 | uncertain significance | Tuberous sclerosis 2 | 2020-12-22 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome- |
RCV000233520 | SCV002041054 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321769 | SCV002611124 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-12 | criteria provided, single submitter | clinical testing | The p.V109M variant (also known as c.325G>A), located in coding exon 3 of the TSC2 gene, results from a G to A substitution at nucleotide position 325. The valine at codon 109 is replaced by methionine, an amino acid with highly similar properties. 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. |