ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)

dbSNP: rs45517396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506833 SCV000605462 pathogenic not specified 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV000793317 SCV000932665 pathogenic Tuberous sclerosis 2 2018-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1714*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49351). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000793317 SCV002041018 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042611 SCV000066405 not provided Tuberous sclerosis syndrome no assertion provided curation

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