ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.894dup (p.Val299fs)

dbSNP: rs137854024
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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 RCV001058679 SCV001223266 pathogenic Tuberous sclerosis 2 2020-10-05 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.Val299Cysfs*39) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. 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: 49935). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043202 SCV000067003 not provided Tuberous sclerosis syndrome no assertion provided curation

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