Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001797953 | SCV002041825 | pathogenic | Autosomal recessive polycystic kidney disease | 2021-11-12 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.9183_9186delins14 (p.Asn3062LeufsX57) 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 251098 control chromosomes. c.9183_9186delins14 has been reported in the literature in individuals affected with Polycystic Kidney And Hepatic Disease (example, Denamur_2010, Riedhammer_2020). 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 although a variant annotated differently translating to the similar protein effect has been submitted under an ID (807462). Based on the evidence outlined above, the variant was classified as pathogenic. |