ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) (rs45517340)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190004 SCV000243676 pathogenic not provided 2018-04-18 criteria provided, single submitter clinical testing p.Arg1459Ter (CGA>TGA): c.4375 C>T in exon 34 of the TSC2 gene (NM_000548.3)The R1459X missense mutation in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (Jones et al., 1999; TSC2 LOVD). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in TUBSC-EPIV2 panel(s).
Athena Diagnostics Inc RCV000201120 SCV000255901 pathogenic Tuberous sclerosis 2 2015-08-14 criteria provided, single submitter clinical testing
Invitae RCV000201120 SCV000285400 pathogenic Tuberous sclerosis 2 2019-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1459*) 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 observed to be de novo in an individual affected with tuberous sclerosis complex (PMID: 14508401), and has been reported in other affected individuals (PMID: 10205261, 28968464, 20633017, 10533067, 11112665, 10570911). ClinVar contains an entry for this variant (Variation ID: 49986). 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) RCV000043253 SCV000067054 not provided Tuberous sclerosis syndrome no assertion provided curation

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