Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009014 | SCV001168823 | likely pathogenic | not provided | 2018-08-22 | criteria provided, single submitter | clinical testing | The c.1314delG variant in the TUBGCP6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1314delG variant causes a frameshift starting with codon Arginine 438, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Arg438SerfsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1314delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1314delG as a likely pathogenic variant. |