ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4168G>T (p.Glu1390Ter)

dbSNP: rs397515033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441736 SCV004169029 pathogenic not provided 2023-11-07 criteria provided, single submitter clinical testing Nonsense 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); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25525159, 15798777)
Tuberous sclerosis database (TSC2) RCV000055256 SCV000083475 not provided Tuberous sclerosis syndrome no assertion provided curation

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