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
Labcorp Genetics (formerly Invitae), Labcorp RCV000793317 SCV000932665 pathogenic Tuberous sclerosis 2 2024-04-22 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. 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 TSC2-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49351). 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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