Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003416976 | SCV004109026 | likely pathogenic | PKHD1-related disorder | 2023-05-15 | criteria provided, single submitter | clinical testing | The PKHD1 c.6922_6931delinsTGATCAGGT variant is predicted to result in premature protein termination (p.Ala2308*). 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. Nonsense variants in PKHD1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |