Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165847 | SCV000216596 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-05 | criteria provided, single submitter | clinical testing | The p.R628H variant (also known as c.1883G>A), located in coding exon 17 of the TSC2 gene, results from a G to A substitution at nucleotide position 1883. The arginine at codon 628 is replaced by histidine, an amino acid with highly similar properties. This alteration was identified in an individual with a clinical diagnosis of tuberous sclerosis complex (Ng SY et al. Eur J Med Genet, 2022 Oct;65:104573). This amino acid position is highly 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. |
Invitae | RCV000531841 | SCV000644293 | likely benign | Tuberous sclerosis 2 | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548583 | SCV001768517 | uncertain significance | not provided | 2020-07-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV000531841 | SCV002039589 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |