Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598572 | SCV000710751 | pathogenic | not provided | 2018-02-22 | criteria provided, single submitter | clinical testing | The c.10998delT variant in the PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.10998delT variant causes a frameshift starting with codon Isoleucine 3666, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Ile3666MetfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.10998delT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.10998delT as a pathogenic variant. |