ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) (rs45491698)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201071 SCV000255889 likely pathogenic Tuberous sclerosis 2 2015-07-09 criteria provided, single submitter clinical testing
Invitae RCV000201071 SCV000644403 pathogenic Tuberous sclerosis 2 2017-05-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 1032 of the TSC2 protein (p.Arg1032Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals in the TSC2 Leiden Open-source Variation Database, and has been shown to arise de novo in two individuals affected with tuberous sclerosis complex (TSC) (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49241). An experimental study has shown that this missense change impacts the TSC1-TSC2 complex function and prevents TSC complex-dependent inhibition of mTOR activity (PMID: 21309039). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042500 SCV000066291 not provided Tuberous sclerosis syndrome no assertion provided curation

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