ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1352_1353del (p.Arg451fs)

dbSNP: rs397515082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806791 SCV000946809 pathogenic Tuberous sclerosis 2 2018-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg451Ilefs*30) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with tuberous sclerosis complex in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 65109). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003441737 SCV004167679 pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15798777)
Tuberous sclerosis database (TSC2) RCV000055321 SCV000083541 not provided Tuberous sclerosis syndrome no assertion provided curation

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