Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |