Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473435 | SCV000544454 | likely benign | Tuberous sclerosis 2 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001023737 | SCV001185652 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | The p.P1737L variant (also known as c.5210C>T), located in coding exon 40 of the TSC2 gene, results from a C to T substitution at nucleotide position 5210. The proline at codon 1737 is replaced by leucine, an amino acid with similar properties. This alteration was identified in an individual with a clinical diagnosis of tuberous sclerosis complex however they were also found to carry TSC1 c.363+2G>T (Togi S et al. Int J Mol Sci, 2022 Sep;23:). This amino acid position is not 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. |
Gene |
RCV001546269 | SCV001765761 | uncertain significance | not provided | 2020-12-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV000473435 | SCV002040262 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Division of Genomic Medicine, |
RCV000473435 | SCV002559799 | likely pathogenic | Tuberous sclerosis 2 | 2022-07-19 | criteria provided, single submitter | clinical testing | According to ACMG GL 2015, this variant located in the GAP domain (PM1), assumed de novo (PM6), multiple lines of computational evidence support a deleterious effect (PP3), and detected in the patient with clinically definitive tuberous sclerosis complex (PP4). |
Ce |
RCV001546269 | SCV004129883 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing |