Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557398 | SCV000629926 | pathogenic | Autosomal recessive polycystic kidney disease | 2022-02-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 458602). This premature translational stop signal has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 24162162). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1804Leufs*18) 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). |
Prevention |
RCV003900129 | SCV004716777 | pathogenic | PKHD1-related disorder | 2024-01-02 | criteria provided, single submitter | clinical testing | The PKHD1 c.5411delG variant is predicted to result in a frameshift and premature protein termination (p.Arg1804Leufs*18). This variant was reported to be causative for autosomal recessive polycystic kidney disease (Table 1, Krall et al. 2014. PubMed ID: 24162162). This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in PKHD1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Counsyl | RCV000557398 | SCV001132461 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2015-04-03 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000557398 | SCV002078082 | pathogenic | Autosomal recessive polycystic kidney disease | 2017-11-30 | no assertion criteria provided | clinical testing |