Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409321 | SCV000486092 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2016-03-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000409321 | SCV001585760 | pathogenic | Autosomal recessive polycystic kidney disease | 2020-09-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant has not been reported in the literature in individuals with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 370711). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg864Glyfs*10) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. |