Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413759 | SCV000492397 | pathogenic | not provided | 2016-12-02 | criteria provided, single submitter | clinical testing | The c.8369delC variant in the PKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.8369delC variant causes a frameshift starting with codon Proline 2790, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 85 of the new reading frame, denoted p.Pro2790ArgfsX85. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.8369delC variant was not observed in approximately 6,400 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.8369delC as a pathogenic variant. |
Prevention |
RCV003392231 | SCV004110329 | likely pathogenic | PKD1-related condition | 2023-03-08 | criteria provided, single submitter | clinical testing | The PKD1 c.8369delC variant is predicted to result in a frameshift and premature protein termination (p.Pro2790Argfs*85). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PKD1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |