Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412211 | SCV000486435 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000412211 | SCV000939627 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-10-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1105Profs*2) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 35778421). ClinVar contains an entry for this variant (Variation ID: 370990). For these reasons, this variant has been classified as Pathogenic. |