ClinVar Miner

Submissions for variant NM_001793.6(CDH3):c.461del (p.Pro154fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003894681 SCV004709483 likely pathogenic CDH3-related disorder 2023-10-23 no assertion criteria provided clinical testing The CDH3 c.461delC variant is predicted to result in a frameshift and premature protein termination (p.Pro154Leufs*7). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in CDH3 are expected to be pathogenic. Therefore we interpret this variant as likely pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818437 SCV005072059 likely pathogenic Retinal dystrophy 2006-01-01 no assertion criteria provided clinical testing

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