Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486282 | SCV000572840 | pathogenic | not provided | 2017-01-19 | criteria provided, single submitter | clinical testing | The c.12310_12313dupGTTA variant in the PKD1 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 Isoleucine 4105, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 53 of the new reading frame, denoted p.Ile4105SerfsX53. This variant is predicted to cause loss of normal protein function through protein truncation. The c.12310_12313dupGTTA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.12310_12313dupGTTA as a pathogenic variant. |