ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter)

dbSNP: rs137854015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484132 SCV000568291 pathogenic not provided 2019-09-12 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Different substitutions (c.3099delC, c.3099 C>A, c.3099 C>G) resulting in the same protein change seen in this individual (p.Y1033X) have been reported in ClinVar and the TSC2 database (Landrum et al., 2016); This variant is associated with the following publications: (PMID: 11112665, 17304050)
Invitae RCV003511990 SCV004296662 pathogenic Tuberous sclerosis 2 2023-04-26 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: 49733). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis (PMID: 11112665). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1033*) 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) RCV000042998 SCV000066796 not provided Tuberous sclerosis syndrome no assertion provided curation

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