ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5114_5117dup (p.Asn1707fs)

dbSNP: rs2151621480
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895293 SCV002152827 pathogenic Tuberous sclerosis 2 2020-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1707Profs*23) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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