Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599569 | SCV000710576 | pathogenic | not provided | 2018-02-01 | criteria provided, single submitter | clinical testing | The c.808delC variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.808delC variant causes a frameshift starting with codon Leucine 270, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Leu270CysfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.808delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.808delC as a pathogenic variant. |