ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter) (rs397514979)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460919 SCV000544286 pathogenic Tuberous sclerosis 2 2016-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1208 (p.Trp1208*) 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 individuals affected with tuberous sclerosis in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000055176 SCV000083394 not provided Tuberous sclerosis syndrome no assertion provided curation

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