Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000201112 | SCV000255861 | pathogenic | Tuberous sclerosis 1 | 2013-08-09 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002426611 | SCV002742707 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-05-18 | criteria provided, single submitter | clinical testing | The p.Q900* pathogenic mutation (also known as c.2698C>T), located in coding exon 19 of the TSC1 gene, results from a C to T substitution at nucleotide position 2698. This changes the amino acid from a glutamine to a stop codon within coding exon 19. This alteration (also described as c.2919C>T) has been reported in individuals with tuberous sclerosis complex (TSC), and functional studies suggested reduced efficiency (Hoogeveen-Westerveld M et al. Biochim. Biophys. Acta, 2010 Sep;1802:774-81). 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. |
| Gene |
RCV002508192 | SCV002817874 | pathogenic | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate that this variant reduces TSC1-TSC2 complex formation and inhibition of mTOR activity (Hoogeveen-Westerveld et al., 2010); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 15798777, 20547222) |
| Tuberous sclerosis database |
RCV000055019 | SCV000083237 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |