Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627555 | SCV000748555 | pathogenic | not provided | 2019-01-15 | criteria provided, single submitter | clinical testing | The c.1648delA variant in the DNAH11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1648delA variant causes a frameshift starting with codon Arginine 550, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Arg550GlyfsX16. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1648delA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1648delA as a pathogenic variant. |