ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2784del (p.Glu929fs)

dbSNP: rs34245038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004700313 SCV005201652 pathogenic not provided 2024-02-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 9829910)
Tuberous sclerosis database (TSC2) RCV000042491 SCV000066282 not provided Tuberous sclerosis syndrome no assertion provided curation

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