Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554931 | SCV000644664 | likely benign | Tuberous sclerosis 2 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000612409 | SCV000711361 | uncertain significance | not specified | 2016-09-21 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The p.Thr246Ala variant in TSC2 has been reported in 1 Asian individual as well as one family m ember with Tuberous Sclerosis (Sasongko 2008). This variant has been identified in 1/10372 African chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs137854123). Computational prediction tools and conservation analysis suggest that the p.Thr246Ala variant may impact the prote in, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Thr246Ala variant is uncertain. |
Genome- |
RCV000554931 | SCV002041093 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002288539 | SCV002578860 | uncertain significance | not provided | 2022-09-30 | criteria provided, single submitter | clinical testing | Previously reported as a maternally inherited variant of uncertain significance in a patient suspected to have TSC; detailed clinical information not provided (Meng et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18466115, 26994145, 30564305, 18772611, 32917966, 25637381) |
Ambry Genetics | RCV002381326 | SCV002670443 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-10-08 | criteria provided, single submitter | clinical testing | The p.T246A variant (also known as c.736A>G), located in coding exon 7 of the TSC2 gene, results from an A to G substitution at nucleotide position 736. The threonine at codon 246 is replaced by alanine, an amino acid with similar properties. This alteration was detected in two members of a Japanese family with features of tuberous sclerosis (TSC) (Sasongko TH et al, 2008 May;54:E73-81). This alteration was also detected in a patient with metastatic congenital melanoma (Chang W et al, 2016 08;22:3810-20). 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. |
Baylor Genetics | RCV003460556 | SCV004204529 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042644 | SCV000066439 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
CSER _CC_NCGL, |
RCV000042644 | SCV000190674 | uncertain significance | Tuberous sclerosis syndrome | 2014-06-01 | no assertion criteria provided | research |