ClinVar Miner

Submissions for variant NM_001332.4(CTNND2):c.896C>A (p.Ser299Ter)

dbSNP: rs1064796494
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485964 SCV000573269 likely pathogenic not provided 2017-02-21 criteria provided, single submitter clinical testing The S299X variant in the CTNND2 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 S299X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, we interpret S299X as a likely pathogenic variant

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