Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498739 | SCV000590461 | uncertain significance | not provided | 2017-06-12 | criteria provided, single submitter | clinical testing | The c.1039delT variant in the SKI gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1039delT variant causes a frameshift starting with codon Serine 347, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 84 of the new reading frame, denoted p.Ser347ProfsX84. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1039delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1039delT as a variant of uncertain significance. |