Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008499 | SCV001168270 | likely pathogenic | not provided | 2018-12-14 | criteria provided, single submitter | clinical testing | The c.1650delG variant in the COL17A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1650delG variant causes a frameshift starting with codon Methionine 550, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Met550IlefsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1650delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1650delG as a likely pathogenic variant. |