Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000177400 | SCV000229253 | pathogenic | not provided | 2012-09-12 | criteria provided, single submitter | clinical testing | |
| Blueprint Genetics | RCV000177400 | SCV000927560 | likely pathogenic | not provided | 2018-03-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001035923 | SCV001199263 | pathogenic | Autosomal recessive polycystic kidney disease | 2021-06-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu29*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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: 96435). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001035923 | SCV002555982 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2022-06-17 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.85G>T (p.Glu29X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251362 control chromosomes (gnomAD). To our knowledge, no occurrence of c.85G>T in individuals affected with Polycystic Kidney And Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic and likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Revvity Omics, |
RCV003129775 | SCV003809356 | likely pathogenic | Polycystic kidney disease 4 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003398683 | SCV004119198 | pathogenic | PKHD1-related disorder | 2024-01-04 | criteria provided, single submitter | clinical testing | The PKHD1 c.85G>T variant is predicted to result in premature protein termination (p.Glu29*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in PKHD1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
| Baylor Genetics | RCV003129775 | SCV004202266 | pathogenic | Polycystic kidney disease 4 | 2023-10-02 | criteria provided, single submitter | clinical testing |