ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1369del (p.Ser457fs)

dbSNP: rs118203523
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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 RCV002513609 SCV003441317 pathogenic Tuberous sclerosis 1 2024-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser457Valfs*7) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 48775). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042022 SCV000065804 not provided Tuberous sclerosis syndrome no assertion provided curation

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