ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter)

dbSNP: rs1555379968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627352 SCV000748344 pathogenic not provided 2021-01-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation as the last 104 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000627352 SCV001447754 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265370 SCV001443495 pathogenic CHAMP1-related syndrome 2018-09-28 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-28 and interpreted as Pathogenic. Variant was initially reported on 2018-05-30 by GTR ID of laboratory name 193071. The reporting laboratory might also submit to ClinVar.

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