ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter) (rs45517143)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462556 SCV000544458 pathogenic Tuberous sclerosis 2 2016-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 324 (p.Tyr324*) 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). While this particular variant has not been reported in the literature, a different nucleotide change (c.972C>G) with the same effect on the TSC2 protein (p.Tyr324*) was identified in a patient affected with tuberous sclerosis complex (TSC) (PMID: 10735580). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043213 SCV000067014 not provided Tuberous sclerosis syndrome no assertion provided curation

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