Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201008 | SCV000255911 | pathogenic | Tuberous sclerosis 2 | 2015-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336162 | SCV002641135 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-10-19 | criteria provided, single submitter | clinical testing | The p.Q1724* pathogenic mutation (also known as c.5170C>T), located in coding exon 40 of the TSC2 gene, results from a C to T substitution at nucleotide position 5170. This changes the amino acid from a glutamine to a stop codon within coding exon 40. This alteration was identified in an individual with a clinical diagnosis of tuberous sclerosis complex (TSC) (Beauchamp RL et al. Hum Mutat, 1998;12:408-16). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
Invitae | RCV000201008 | SCV003441717 | pathogenic | Tuberous sclerosis 2 | 2023-07-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 49950). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 9829910). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1724*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). |
Tuberous sclerosis database |
RCV000043217 | SCV000067018 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |