Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003899107 | SCV004714974 | uncertain significance | PKHD1-related disorder | 2023-10-25 | criteria provided, single submitter | clinical testing | The PKHD1 c.6704C>A variant is predicted to result in the amino acid substitution p.Thr2235Lys. To our knowledge, this variant has not been reported in the literature or a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Of note, a different substitution at the same codon defined as c.6704C>G (p.Thr2235Arg) was reported in a patient with autosomal recessive polycystic kidney disease (ARPKD), but the clinical significance is unknown (Melchionda et al. 2016. PubMed ID: 27225849). At PreventionGenetics, we have found the c.6704C>A (p.Thr2235Lys) variant in the compound heterozygous state with a pathogenic nonsense variant in a patient tested for polycystic kidney disease. Therefore, we highly suspect this variant is pathogenic. At this time, however, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |