ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter)

dbSNP: rs1568097623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760733 SCV000890626 pathogenic not provided 2018-09-06 criteria provided, single submitter clinical testing The Q89X nonsense variant in the SETBP1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q89X variant is not observed in large population cohorts (Lek et al., 2016).
GenomeConnect - Simons Searchlight RCV001265338 SCV001443456 likely pathogenic Intellectual disability, autosomal dominant 29 2018-11-21 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-11-21 and interpreted as Likely Pathogenic. Variant was initially reported on 2018-09-11 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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