ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter)

dbSNP: rs45517308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810322 SCV000950516 pathogenic Tuberous sclerosis 2 2018-09-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). 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: 49549). A different variant (c.3750C>G) resulting in the same truncation (p.Tyr1250*) has been observed in an individual affected with tuberous sclerosis complex (PMID: 11112665). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1250*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product.
Tuberous sclerosis database (TSC2) RCV000042809 SCV000066605 not provided Tuberous sclerosis syndrome no assertion provided curation

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