Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Department, |
RCV003326288 | SCV004032427 | likely pathogenic | Polycystic kidney disease 4 | 2023-04-20 | criteria provided, single submitter | clinical testing | A heterozygous variant in the PKHD1 gene (6-51836414-T-TG) has been identified, resulting in a reading frame shift and impaired protein synthesis (p.Thr2722AsnfsTer10, NM_138694). Homozygous and compound heterozygous variants in the PKHD1 gene have been described in patients with OMIM: 263200, Polycystic kidney disease 4, with or without hepatic disease. The variant is not reported in the gnomAD control sample. The variant was identified in compound with another pathogenic variant (p.Arg3107Ter, NM_138694, rs786204688), however, cis- or trans-position was not verified. Based on the totality of the data, the variant should be considered as likely pathogenic. |