ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4375del (p.Arg1459fs)

dbSNP: rs397514959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044787 SCV001208602 pathogenic Tuberous sclerosis 2 2023-09-14 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: 64944). This premature translational stop signal has been observed in individual(s) with clinical features of TSC2-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1459Glufs*17) 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).
Tuberous sclerosis database (TSC2) RCV000055147 SCV000083365 not provided Tuberous sclerosis syndrome no assertion provided curation

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