ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)

dbSNP: rs45517329
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390822 SCV001592672 pathogenic Tuberous sclerosis 2 2022-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1377*) 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 premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 28065512, 30036593). ClinVar contains an entry for this variant (Variation ID: 49800). For these reasons, this variant has been classified as Pathogenic.
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand RCV001390822 SCV004034110 pathogenic Tuberous sclerosis 2 2023-07-01 criteria provided, single submitter research
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001390822 SCV004045876 pathogenic Tuberous sclerosis 2 2023-06-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003460557 SCV004205120 pathogenic Isolated focal cortical dysplasia type II 2022-05-29 criteria provided, single submitter clinical testing
GeneDx RCV004812298 SCV005437424 pathogenic not provided 2024-06-12 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 15798777, 17304050, 10205261, 27974549, Reed2021[Functional Study], 32917966, 30036593, 32211034, Alonso-Pena2019[Review], 35870981, 35638823, 33278787, 28065512)
Tuberous sclerosis database (TSC2) RCV000043066 SCV000066865 not provided Tuberous sclerosis syndrome no assertion provided curation

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