ClinVar Miner

Submissions for variant NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter)

gnomAD frequency: 0.00002  dbSNP: rs752054405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579255 SCV000681299 pathogenic not provided 2018-01-04 criteria provided, single submitter clinical testing The C64X pathogenic variant in the CLDN1 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 C64X variant is not observed in large population cohorts (Lek et al., 2016). We interpret C64X as a pathogenic variant.
CeGaT Center for Human Genetics Tuebingen RCV000579255 SCV001154126 likely pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing

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