Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000808212 | SCV000948308 | likely benign | Tuberous sclerosis 1 | 2023-08-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002291701 | SCV002584427 | uncertain significance | not provided | 2022-04-14 | 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 |
Ambry Genetics | RCV002370159 | SCV002683453 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-06 | criteria provided, single submitter | clinical testing | The p.S295T variant (also known as c.884G>C), located in coding exon 7 of the TSC1 gene, results from a G to C substitution at nucleotide position 884. The serine at codon 295 is replaced by threonine, an amino acid with similar 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. |
Fulgent Genetics, |
RCV002487737 | SCV002791850 | uncertain significance | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2021-09-14 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004803245 | SCV005426979 | uncertain significance | Tuberous sclerosis syndrome | 2024-09-23 | criteria provided, single submitter | clinical testing | This missense variant replaces serine with threonine at codon 295 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 hereditary cancer in the literature. This variant has been identified in 1/251286 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. |