ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2356-1G>A (rs45481704)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520834 SCV000617349 pathogenic not provided 2015-12-21 criteria provided, single submitter clinical testing The c.2356-1 G>A splice site variant in the TSC2 gene has been previously reported in association with tuberous sclerosis complex (Jones et al., 2000; Niida et al., 2013). In those studies, c.2356-1 G>A was reported as c.2374-1 G>A or IVS20-1 G>A due to use of alternative nomenclature. This pathogenic variant destroys the canonical splice acceptor site in intron 21, and is expected to cause abnormal gene splicing. Therefore, the presence of c.2356-1 G>A is consistent with a diagnosis of tuberous sclerosis complex
Tuberous sclerosis database (TSC2) RCV000042462 SCV000066253 not provided Tuberous sclerosis syndrome no assertion provided curation

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