ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) (rs45517222)

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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 RCV000201032 SCV000255880 pathogenic Tuberous sclerosis 2 2014-07-30 criteria provided, single submitter clinical testing
Invitae RCV000201032 SCV000544361 pathogenic Tuberous sclerosis 2 2019-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg751*) 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 in individuals affected with tuberous sclerosis complex (PMID: 10205261, 22552000, 25281918). ClinVar contains an entry for this variant (Variation ID: 50131). 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 RCV000519394 SCV000617348 pathogenic not provided 2017-10-06 criteria provided, single submitter clinical testing The R751X nonsense variant in the TSC2 gene has been reported multiple times previously in association with tuberous sclerosis complex (TSC) (Jones et al., 1999; TSC2 LOVD). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R751X variant is not observed in large population cohorts (Lek et al., 2016).
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000201032 SCV000782402 pathogenic Tuberous sclerosis 2 2016-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763365 SCV000894061 pathogenic Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 2018-10-31 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043398 SCV000067204 not provided Tuberous sclerosis syndrome no assertion provided curation
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University RCV000201032 SCV001364426 pathogenic Tuberous sclerosis 2 2020-06-11 no assertion criteria provided clinical testing

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