Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000672971 | SCV000798133 | pathogenic | Autosomal recessive polycystic kidney disease | 2018-02-28 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000672971 | SCV001362924 | pathogenic | Autosomal recessive polycystic kidney disease | 2019-05-16 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.7122delT (p.Phe2374LeufsX41) 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 was absent in 250874 control chromosomes (gnomAD). c.7122delT has been reported in the literature in individuals affected with Polycystic Kidney and Hepatic Disease (Denamur_2010, Gunay-Aygun_2010, Szabo_2018, Tong_2016). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV000672971 | SCV002203267 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-08-24 | 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: 556905). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 19914852). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe2374Leufs*41) 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). |
| Baylor Genetics | RCV003459639 | SCV004204631 | pathogenic | Polycystic kidney disease 4 | 2023-06-17 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000672971 | SCV002078029 | pathogenic | Autosomal recessive polycystic kidney disease | 2020-11-24 | no assertion criteria provided | clinical testing |