ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs) (rs2077025601)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics laboratory, University of Goettingen RCV001260492 SCV001437511 pathogenic Koolen-de Vries syndrome 2020-06-16 criteria provided, single submitter clinical testing The KANSL1 variant c.3046dupG is not found in the gnomAD database. The mutation has been occurred de novo. The variant c.3046dupG in KANSL1 causes a frameshift and possibly also haploinsufficency. Thus, we consider this variant to be pathogenic. ACMG criteria used for classification: PVS1_vstr, PM2.

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