ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.2058del (p.Lys686fs) (rs1064793433)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484004 SCV000566107 pathogenic not provided 2015-03-24 criteria provided, single submitter clinical testing The c.2058delA variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.2058delA deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2058delA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. We interpret c.2058delA as a pathogenic variant.

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