ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1881_1882del (p.His627fs)

dbSNP: rs2151297228
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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 RCV001972546 SCV002245857 pathogenic Tuberous sclerosis 2 2022-10-25 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: 1457068). This premature translational stop signal has been observed in individual(s) with TSC2-related disease (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His627Glnfs*29) 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).

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