ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) (rs45517169)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201131 SCV000255873 pathogenic Tuberous sclerosis 2 2014-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000441085 SCV000516760 pathogenic not provided 2018-10-15 criteria provided, single submitter clinical testing The R458X nonsense variant in the TSC2 gene has been reported previously in multipleunrelated individuals with a clinical diagnosis of tuberous sclerosis complex (TSC) (Rose etal., 1999; Dabora et al., 2001; Au et al., 2007; TSC2 LOVD). This variant is predicted tocause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000201131 SCV000644237 pathogenic Tuberous sclerosis 2 2019-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 458 (p.Arg458*) of 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. This particular variant has been reported in the literature and in the Leiden Open-source Variation Database (PMID: 21520333) in multiple individuals and families affected with tuberous sclerosis complex (PMID: 15121797, 10090883,20633017, 11112665, 21510812, 25782670, 28065512). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000624878 SCV000741022 pathogenic Inborn genetic diseases 2016-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000042408 SCV000928333 pathogenic Tuberous sclerosis syndrome 2019-07-17 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042408 SCV000066199 not provided Tuberous sclerosis syndrome no assertion provided curation
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University RCV000201131 SCV001364422 pathogenic Tuberous sclerosis 2 2020-06-11 no assertion criteria provided clinical testing

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