Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052119 | SCV001216313 | likely benign | Tuberous sclerosis 1 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393262 | SCV002668887 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-26 | criteria provided, single submitter | clinical testing | The p.T415I variant (also known as c.1244C>T), located in coding exon 10 of the TSC1 gene, results from a C to T substitution at nucleotide position 1244. The threonine at codon 415 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. 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. |
Prevention |
RCV003973037 | SCV004786819 | uncertain significance | TSC1-related condition | 2024-02-05 | criteria provided, single submitter | clinical testing | The TSC1 c.1244C>T variant is predicted to result in the amino acid substitution p.Thr415Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/848377/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |