Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000457246 | SCV000552283 | likely benign | Tuberous sclerosis 1 | 2023-12-31 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002446833 | SCV002753645 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-19 | criteria provided, single submitter | clinical testing | The p.P1023S variant (also known as c.3067C>T), located in coding exon 21 of the TSC1 gene, results from a C to T substitution at nucleotide position 3067. The proline at codon 1023 is replaced by serine, 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. |
| All of Us Research Program, |
RCV004001893 | SCV004827857 | uncertain significance | Tuberous sclerosis syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing | This missense variant replaces proline with serine at codon 1023 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 1/249770 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. |