ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter)

dbSNP: rs45517306
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760363 SCV000890225 pathogenic not provided 2022-07-19 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28968464, 25525159, 25498131, 25782670, 15798777, 17304050, 11112665, 31927531, 10205261, Wang2020[Case Report], 35712104, 26540169, 27535533)
Invitae RCV001036695 SCV001200072 pathogenic Tuberous sclerosis 2 2021-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1229*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has been observed in individuals affected with tuberous sclerosis complex (PMID: 1112665, 28968464, Invitae). ClinVar contains an entry for this variant (Variation ID: 49270). This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV001036695 SCV002040980 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042529 SCV000066320 not provided Tuberous sclerosis syndrome no assertion provided curation

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