Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000483577 | SCV000573151 | pathogenic | not provided | 2017-02-08 | criteria provided, single submitter | clinical testing | The c.2311_2323del13insATG variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2311_2323del13insATG variant causes a frameshift starting with codon Leucine 771, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Leu771MetfsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2311_2323del13insATG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2311_2323del13insATG as a pathogenic variant. |