ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3214del (p.Ser1072fs) (rs137854106)

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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 RCV000043068 SCV000967772 pathogenic Tuberous sclerosis syndrome 2018-04-20 criteria provided, single submitter clinical testing The p.Ser1072fs variant in TSC2 has been reported in one individual with tuberou s sclerosis complex (TSC), segregated with disease in 2 relatives (Dabora 2001, Franz 2001, LOVD TSC2 database [http://chromium.lovd.nl/LOVD2/TSC/variants]), an d was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at positio n 1072 and leads to a premature termination codon 10 amino acids downstream. Thi s alteration is then predicted to lead to a truncated or absent protein. Heteroz ygous loss of function of the TSC2 gene is an established disease mechanism in i ndividuals with TSC. In summary, this variant meets criteria to be classified as pathogenic for TSC in an autosomal dominant manner based upon its presence in a ffected individuals, absence in the general population and the predicted impact on the protein. ACMG/AMP Criteria applied: PVS1, PM2, PS4_Supporting.
Tuberous sclerosis database (TSC2) RCV000043068 SCV000066867 not provided Tuberous sclerosis syndrome no assertion provided curation

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