ClinVar Miner

Submissions for variant NM_003816.3(ADAM9):c.1616del (p.Cys539fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002287550 SCV002576801 likely pathogenic Cone-rod dystrophy 9 2022-10-05 criteria provided, single submitter clinical testing The variant c.1616del (p.(Cys539Phefs*5)) in exon 15 of the ADAM9 gene is not found in the gnomAD database and it creates a frame shift starting at codon Cys539. The new reading frame ends in a STOP codon at position 5. This variant was found in homozygous state in a patient with consanguineous parents. ACMG criteria used for classification: PVS1, PM2.

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