Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548550 | SCV000629911 | pathogenic | Autosomal recessive polycystic kidney disease | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp937*) 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 clinical features of polycystic kidney disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 458592). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001535924 | SCV000894383 | pathogenic | Polycystic kidney disease 4 | 2022-01-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001535924 | SCV001752576 | pathogenic | Polycystic kidney disease 4 | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001535924 | SCV002018820 | pathogenic | Polycystic kidney disease 4 | 2021-01-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001535924 | SCV004204567 | pathogenic | Polycystic kidney disease 4 | 2023-08-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925600 | SCV004746141 | pathogenic | PKHD1-related condition | 2023-10-25 | criteria provided, single submitter | clinical testing | The PKHD1 c.2811G>A variant is predicted to result in premature protein termination (p.Trp937*). This variant has been reported to be pathogenic for autosomal recessive polycystic kidney disease (ARPKD) (see for example at Bullich et al. 2018. PubMed ID: 29801666, supplementary table 1). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PKHD1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Counsyl | RCV000548550 | SCV001132459 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2014-01-02 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000548550 | SCV002081015 | pathogenic | Autosomal recessive polycystic kidney disease | 2017-11-30 | no assertion criteria provided | clinical testing |