ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter)

dbSNP: rs1599368323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995868 SCV001150252 pathogenic Intellectual disability, autosomal dominant 29 2019-06-07 criteria provided, single submitter clinical testing
Principal Investigator Group 2, Tianjin Key Laboratory of Human Development and Reproductive Regulation, Tianjin Central Hospital of Gynecology and Obstetrics RCV000995868 SCV005442721 likely pathogenic Intellectual disability, autosomal dominant 29 no assertion criteria provided clinical testing This variant results in the 809th amino acid in SKI domain replaced by a stop codon and causes termination of the SETBP1 protein. The SETBP1 gene is of sufficient evidence for dosage pathogenicity and was absent from large population studies. This variant has been reported with Autosomal dominant inheritance (VCV000807682.2) C, and we confirmed it in a Chinese family. Additionally, the SETBP1 knock out by CRISPR/Cas9 affects forebrain progenitor expansion and neurogenic differentiation in hESC lines. In summary, the Gln809* variant meet our criteria to be classified as pathogenic (www.partners.org/personalizedmedicine/lmm) based upon segregation studies, absence from controls, and functional evidence.

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