ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.682C>T (p.Arg228Ter) (rs118203427)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201126 SCV000255864 pathogenic Tuberous sclerosis 1 2014-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515416 SCV000611332 pathogenic Lymphangiomyomatosis; Tuberous sclerosis 1; Focal cortical dysplasia type II 2017-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000189836 SCV000243489 pathogenic not provided 2018-09-07 criteria provided, single submitter clinical testing The R228X nonsense pathogenic variant in the TSC1 gene has been reported multiple times previously in association with tuberous sclerosis complex (TSC) (Young et al., 1998; TSC1 LOVD). This pathogenic variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay. The R228X variant is not observed in large populationcohorts (Lek et al., 2016). Therefore, the presence of R228X is consistent with the diagnosis of TSC in this individual.
Invitae RCV000201126 SCV000284736 pathogenic Tuberous sclerosis 1 2018-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg228*) in the TSC1 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 the literature in individuals affected with tuberous sclerosis (PMID: 10090883, 16114042, 9803264, 9924605, 10533067). This variant is also known as 903C>T (R228X) in the literature. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042337 SCV000066126 not provided Tuberous sclerosis syndrome no assertion provided curation

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