ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.336+2T>G

dbSNP: rs45505995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003233097 SCV003930950 pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Deletions involving coding exons of this gene are a known mechanism of disease (HGMD); This variant is associated with the following publications: (PMID: 25525159, 11112665, 18466115, 24325802, 12015165, 17304050)
Tuberous sclerosis database (TSC2) RCV000043331 SCV000067137 not provided Tuberous sclerosis syndrome no assertion provided curation

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