ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1005dup (p.Arg336fs)

dbSNP: rs2131975092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808009 SCV002058365 likely pathogenic Tuberous sclerosis 1 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV001808009 SCV005845334 pathogenic Tuberous sclerosis 1 2025-01-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg336Thrfs*5) 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: 1333321). For these reasons, this variant has been classified as Pathogenic.

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