Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000804741 | SCV000944664 | likely benign | Tuberous sclerosis 1 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002453791 | SCV002736670 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-07 | criteria provided, single submitter | clinical testing | The p.R811W variant (also known as c.2431C>T), located in coding exon 17 of the TSC1 gene, results from a C to T substitution at nucleotide position 2431. The arginine at codon 811 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is 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. |
| All of Us Research Program, |
RCV004001673 | SCV004831613 | uncertain significance | Tuberous sclerosis syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with tryptophan at codon 811 of the TSC1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-related disorders in the literature. This variant has been identified in 1/251314 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |