ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.21del (p.Asp8fs)

dbSNP: rs137854019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008915 SCV001168721 pathogenic not provided 2019-10-23 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV005089392 SCV005744341 pathogenic Tuberous sclerosis 2 2024-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp8Ilefs*4) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 49599). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042860 SCV000066656 not provided Tuberous sclerosis syndrome no assertion provided curation

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