ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter) (rs397514913)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233779 SCV000285310 pathogenic Tuberous sclerosis 2 2016-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 896 (p.Trp896*) of the TSC2 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). Although this particular variant has not been reported in the literature, a different variant (c.2687G>A) giving rise to the same protein effect observed here (p.Trp896*) has been reported in a patient affected with tuberous sclerosis (PMID: 11112665). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000055089 SCV000083307 not provided Tuberous sclerosis syndrome no assertion provided curation

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