ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) (rs45465195)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000404065 SCV000329786 pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing The R1032X nonsense variant in the TSC2 gene has been reported multiple times previously in association with TSC (Jones et al., 2000; TSC2 LOVD). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret R1032X as a pathogenic variant.
Invitae RCV000462671 SCV000544381 pathogenic Tuberous sclerosis 2 2018-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1032*) 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 and families affected with tuberous sclerosis (PMID: 21510812, 10942116, 11112665). ClinVar contains an entry for this variant (Variation ID: 49240). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV000404065 SCV000615897 pathogenic not provided 2017-05-25 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042499 SCV000066290 not provided Tuberous sclerosis syndrome no assertion provided curation

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