Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008938 | SCV001168745 | pathogenic | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | The c.608_611dupGGGG variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.608_611dupGGGG variant causes a frameshift starting with codon Methionine 205, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.M205GfsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.608_611dupGGGG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.608_611dupGGGG as a pathogenic variant |