ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2772del (p.Phe924fs)

dbSNP: rs1555508938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660345 SCV000782405 likely pathogenic Tuberous sclerosis 2 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660345 SCV001578712 pathogenic Tuberous sclerosis 2 2018-05-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has not been reported in the literature in individuals with TSC2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe924Leufs*24) in the TSC2 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000660345 SCV002040960 likely pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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