Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV003114226 | SCV003799209 | pathogenic | not provided | 2022-03-24 | criteria provided, single submitter | clinical testing | The TSC2 c.1794C>G; p.Tyr598Ter variant (rs45509094) is reported in the literature in at least two individuals with a clinical diagnosis of TSC (Hung 2006, Jones 1999). The variant is listed in the ClinVar database (Variation ID: 50163) but is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is classified as pathogenic. References: Hung CC et al. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. BMC Med Genet. 2006 Sep 18;7:72. PMID: 16981987. Jones AC et al. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet. 1999 May;64(5):1305-15. PMID: 10205261. |
Invitae | RCV003512002 | SCV004296648 | pathogenic | Tuberous sclerosis 2 | 2023-01-20 | 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: 50163). 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.Tyr598*) 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 |
RCV000043431 | SCV000067237 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |