ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.120del (p.Thr41fs)

dbSNP: rs397515085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513719 SCV003283103 pathogenic Tuberous sclerosis 2 2022-01-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr41Profs*5) 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. ClinVar contains an entry for this variant (Variation ID: 65113).
Tuberous sclerosis database (TSC2) RCV000055325 SCV000083545 not provided Tuberous sclerosis syndrome no assertion provided curation

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