Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665232 | SCV000789316 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001575647 | SCV001802693 | pathogenic | not provided | 2020-11-17 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27752906, 19914852) |
Fulgent Genetics, |
RCV002507152 | SCV002811472 | pathogenic | Polycystic kidney disease 4 | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665232 | SCV003517357 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-05-19 | 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: 550477). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 19914852). This variant is present in population databases (rs765209037, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Thr3379Metfs*21) 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). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000665232 | SCV003923290 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2023-03-27 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.10136delC (p.Thr3379MetfsX21) 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 251312 control chromosomes (gnomAD). c.10136delC has been reported in the literature in individuals affected with Polycystic Kidney And Hepatic Disease (examples: Gunay-Aygun_2010, Tong_2016 Burgmaier_2021). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
Baylor Genetics | RCV002507152 | SCV004204643 | pathogenic | Polycystic kidney disease 4 | 2023-06-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000665232 | SCV002075526 | pathogenic | Autosomal recessive polycystic kidney disease | 2018-05-02 | no assertion criteria provided | clinical testing |