Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003896884 | SCV004712157 | likely pathogenic | PKHD1-related disorder | 2024-02-20 | criteria provided, single submitter | clinical testing | The PKHD1 c.6659T>A variant is predicted to result in the amino acid substitution p.Leu2220His. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Of note, this variant has been found in the compound heterozygous state with a pathogenic PKHD1 variant in two siblings tested for polycystic kidney disease at PreventionGenetics. This variant is interpreted as likely pathogenic. |