ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)

dbSNP: rs137854210
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201083 SCV000255895 pathogenic Tuberous sclerosis 2 2012-06-27 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195892 SCV001366316 pathogenic Lymphangiomyomatosis 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.
Invitae RCV000201083 SCV001592670 pathogenic Tuberous sclerosis 2 2022-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1233*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 16981987). ClinVar contains an entry for this variant (Variation ID: 49539). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000201083 SCV002040982 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003221794 SCV003918514 pathogenic not provided 2022-10-13 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; Reported in a patient with tuberous sclerosis complex in published literature; however, familial segregation information was not provided (Hung et al., 2006); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16981987, 15798777)
Tuberous sclerosis database (TSC2) RCV000042799 SCV000066595 not provided Tuberous sclerosis syndrome no assertion provided curation

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