ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter)

dbSNP: rs45509094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, 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 (TSC2) RCV000043431 SCV000067237 not provided Tuberous sclerosis syndrome no assertion provided curation

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