Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001852907 | SCV002236893 | pathogenic | Tuberous sclerosis 2 | 2022-12-17 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 50156). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 10205261). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr790*) 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). |
| Ambry Genetics | RCV002453343 | SCV002736384 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-06-30 | criteria provided, single submitter | clinical testing | The p.Y790* pathogenic mutation (also known as c.2370C>G), located in coding exon 21 of the TSC2 gene, results from a C to G substitution at nucleotide position 2370. This changes the amino acid from a tyrosine to a stop codon within coding exon 21. This alteration has been detected in a cohort of patients reported to have tuberous sclerosis (Jones AC et al. Am J Hum Genet. 1999;64:1305-15). 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 |
RCV000043424 | SCV000067230 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |