ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.536_537dup (p.Lys180fs) (rs1064794038)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484111 SCV000567647 pathogenic not provided 2015-08-05 criteria provided, single submitter clinical testing The c.536_537dupGA duplication in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.536_537dupGA variant causes a frameshift starting with codon Lysine 180 changes this amino acid to a Glutamic acid residue, and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Lys180GlufsX23. This duplication is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.536_537dupGA 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 common benign variant in these populations. We interpret c.536_537dupGA as a pathogenic variant.

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