Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000412816 | SCV000491623 | pathogenic | not provided | 2016-10-20 | criteria provided, single submitter | clinical testing | The c.1579_1582delATTG pathogenic variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1579_1582delATTG variant causes a frameshift starting with codon Isoleucine 527, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 50 of the new reading frame, denoted p.Ile527ValfsX50. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1579_1582delATTG variant was not observed in approximately 6,500 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.1579_1582delATTG as a pathogenic variant. |