ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4309_4312del (p.Ser1437fs)

dbSNP: rs137854415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002515742 SCV003443419 pathogenic Tuberous sclerosis 2 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1437Glyfs*38) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 64937). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000055140 SCV000067196 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055140 SCV000083358 not provided Tuberous sclerosis syndrome no assertion provided curation

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