Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050047 | SCV001214134 | pathogenic | Tuberous sclerosis 2 | 2019-11-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu588*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has not been reported in the literature in individuals with TSC2-related conditions. |
Ambry Genetics | RCV002409428 | SCV002716768 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-12-14 | criteria provided, single submitter | clinical testing | The p.E588* pathogenic mutation (also known as c.1762G>T), located in coding exon 16 of the TSC2 gene, results from a G to T substitution at nucleotide position 1762. This changes the amino acid from a glutamic acid to a stop codon within coding exon 16. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |