ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)

dbSNP: rs45517388
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713942 SCV000844590 pathogenic not provided 2018-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000713942 SCV002074078 pathogenic not provided 2022-01-20 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); This variant is associated with the following publications: (PMID: 25525159, 15798777)
Institute of Human Genetics, University of Leipzig Medical Center RCV003326118 SCV004032270 pathogenic Tuberous sclerosis 2 2023-10-16 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_MOD,PM2_SUP
CeGaT Center for Human Genetics Tuebingen RCV000713942 SCV004033435 pathogenic not provided 2023-07-01 criteria provided, single submitter clinical testing TSC2: PVS1, PS2, PM2
Tuberous sclerosis database (TSC2) RCV000042700 SCV000066495 not provided Tuberous sclerosis syndrome no assertion provided curation

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