Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003486502 | SCV004241695 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-12-26 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.6273_6285delinsGA (p.Glu2092SerfsX12) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 282502 control chromosomes (gnomAD). To our knowledge, no occurrence of c.6273_6285delinsGA in individuals affected with Polycystic Kidney And Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |