ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4442dup (p.Ser1482fs)

dbSNP: rs137854312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701433 SCV000830234 pathogenic Tuberous sclerosis 2 2018-02-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser1482Glufs*42) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. 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 the literature in an individual affected with tuberous sclerosis complex (PMID: 16981987). This variant is also known as c.4440dupA in the literature. ClinVar contains an entry for this variant (Variation ID: 49298).
Tuberous sclerosis database (TSC2) RCV000042557 SCV000066351 not provided Tuberous sclerosis syndrome no assertion provided curation

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