Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000491308 | SCV000579613 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2016-11-18 | criteria provided, single submitter | clinical testing | The p.L1061P variant (also known as c.3182T>C), located in coding exon 27 of the TSC2 gene, results from a T to C substitution at nucleotide position 3182. The leucine at codon 1061 is replaced by proline, an amino acid with similar properties. In one study, authors used quantifiable western blotting to test several features that influence TSC2 protein function. The mean value of the various measurements observed in this alteration were shown to be significantly different from WT TSC2 protein's measurements (Hoogeveen-Westerveld M et al. Hum. Mutat., 2011 Apr;32:424-35). 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 6497 samples (12994 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
| Tuberous sclerosis database |
RCV000055098 | SCV000083316 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |