ClinVar Miner

Submissions for variant NM_001378743.1(CYLD):c.2616del (p.His871_Tyr872insTer)

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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 RCV002462824 SCV002757071 likely pathogenic Brooke-Spiegler syndrome 2022-11-30 criteria provided, single submitter clinical testing The variant c.2616del (p.(Tyr872*)) in exon 19 of the CYLD gene is not found in the gnomAD database and it changes the protein sequence starting at position 872 and interrupts the reading frame prematurely. This variant was identified in a patient with a clinical diagnosis of Brooke-Spiegler syndrome. ACMG criteria used for classification: PVS1, PM2.

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