Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001349 | SCV001158544 | pathogenic | Polycystic kidney disease, adult type | 2019-06-17 | criteria provided, single submitter | clinical testing | The PKD1 c.11649_11662del; p.Ser3884fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the general population database (Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting 14 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. |