ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.45dup (p.Lys16Ter)

dbSNP: rs397515020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201207 SCV000255902 pathogenic Tuberous sclerosis 2 2014-11-21 criteria provided, single submitter clinical testing
Invitae RCV000201207 SCV003443034 pathogenic Tuberous sclerosis 2 2022-10-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 217252). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 16835931). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys16*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050).
GeneDx RCV003318560 SCV004022760 pathogenic not provided 2023-07-31 criteria provided, single submitter clinical testing A 1 base pair insertion at position 45-46 was reported in an individual with tuberous sclerosis complex in published literature, however the exact variant nomenclature was not provided (Merritt et al., 2006); 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: 23661441, 16835931)

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