ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) (rs45517115)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000042636 SCV000711727 pathogenic Tuberous sclerosis syndrome 2015-11-17 criteria provided, single submitter clinical testing The p.Gln200X variant in TSC2 has been previously reported in 1 individual with Tuberous Sclerosis Complex (TSC) (Langkau 2002). It was absent from large popula tion studies (dbSNP rs45517115). This nonsense variant leads to a premature term ination codon at position 200, which is predicted to lead to a truncated or abse nt protein. Heterozygous loss of TSC2 function is an established disease mechani sm in TSC. In summary, this variant meets our criteria to be classified as path ogenic for TSC in an autosomal dominant manner.
Tuberous sclerosis database (TSC2) RCV000042636 SCV000066431 not provided Tuberous sclerosis syndrome no assertion provided curation

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