ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)

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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 RCV003985698 SCV004801422 likely pathogenic Hearing loss, autosomal dominant 37 2024-03-19 criteria provided, single submitter clinical testing The variant c.1473_1475inv (p.(Met492*)) in exon 12 of the COL11A1 gene is not found in the gnomAD database and changes the protein sequence at position 492 and interrupts the reading frame prematurely. Truncating variants in the COL11A1 gene are a known mechanism of disease. ACMG criteria used for classification: PVS1, PM2_sup.

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