ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter)

dbSNP: rs796053509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190069 SCV000243744 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing p.Trp1060Ter (TGG>TGA): c.3180 G>A in exon 28 of the TSC2 gene (NM_000548.3) The variant is found in TUBSC-EPIV2 panel(s). The W1060X nonsense mutation in the TSC2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This mutation has not been reported previously to our knowledge. This variant is found in TSC2 panel(s).
Invitae RCV000801616 SCV000941400 pathogenic Tuberous sclerosis 2 2023-06-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 207780). This premature translational stop signal has been observed in individual(s) with clinical features of TSC2-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1060*) 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). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000801616 SCV002040968 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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