ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)

dbSNP: rs886041553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000361215 SCV000330229 pathogenic not provided 2016-02-11 criteria provided, single submitter clinical testing The W66X pathogenic variant in the CTNNB1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W66X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret W66X as a pathogenic variant.
GenomeConnect - Simons Searchlight RCV001265460 SCV001443595 pathogenic Severe intellectual disability-progressive spastic diplegia syndrome 2016-03-22 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-03-22 and interpreted as Pathogenic. Variant was initially reported on 2016-02-28 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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