Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002453339 | SCV002613499 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-21 | criteria provided, single submitter | clinical testing | The c.3663_3664delGG pathogenic mutation, located in coding exon 30 of the TSC2 gene, results from a deletion of two nucleotides at nucleotide positions 3663 to 3664, causing a translational frameshift with a predicted alternate stop codon (p.D1222Hfs*11). This mutation was reported in an individual with a clinical diagnosis of tuberous sclerosis who did not have a known family history of tuberous sclerosis (Au KS et al. Genet. Med., 2007 Feb;9:88-100). In addition to the clinical data presented in the literature, 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. |
Tuberous sclerosis database |
RCV000042794 | SCV000066590 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |