Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008426 | SCV001168195 | likely pathogenic | not provided | 2018-10-26 | criteria provided, single submitter | clinical testing | The c.1131dupC variant in the SUFU gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1131dupC variant causes a frameshift starting with codon Glycine 378, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Gly378ArgfsX21. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1131dupC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1131dupC as a likely pathogenic variant. |