Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000713931 | SCV000243699 | likely benign | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28492532) |
Invitae | RCV001087396 | SCV000644500 | likely benign | Tuberous sclerosis 2 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713931 | SCV000844578 | uncertain significance | not provided | 2017-09-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001087396 | SCV002039812 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257482 | SCV002533487 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-12 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002257482 | SCV002619747 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-07 | criteria provided, single submitter | clinical testing | The p.E1344K variant (also known as c.4030G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4030. The glutamic acid at codon 1344 is replaced by lysine, an amino acid with similar properties. 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000713931 | SCV004221450 | uncertain significance | not provided | 2017-09-15 | criteria provided, single submitter | clinical testing | To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000089 (3/33570 chromosomes in Latino/Admixed American subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant. |