ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3683del (p.Leu1228fs)

dbSNP: rs1596400038
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812206 SCV000952511 pathogenic Tuberous sclerosis 2 2020-06-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 conditions. ClinVar contains an entry for this variant (Variation ID: 655926). This sequence change creates a premature translational stop signal (p.Leu1228Argfs*97) in the TSC2 gene. It is expected to result in an absent or disrupted protein product.

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