Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000644231 | SCV000765922 | likely benign | Tuberous sclerosis 2 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002331191 | SCV002626958 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-11-19 | criteria provided, single submitter | clinical testing | The p.R1417W variant (also known as c.4249C>T), located in coding exon 33 of the TSC2 gene, results from a C to T substitution at nucleotide position 4249. The arginine at codon 1417 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6467 samples (12934 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 10000 alleles tested) in our clinical cohort. 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 p.R1417W remains unclear. |