Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658223 | SCV000779994 | uncertain significance | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | The c.2770_2771delCCinsG variant in the KCNT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Proline 924, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 22 of the new reading frame, denoted p.Pro924ValfsX22. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2770_2771delCCinsG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2770_2771delCCinsG as a variant of uncertain significance. |