Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002238675 | SCV002511957 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2022-04-19 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 61 in the PKHD1 gene. A presumed nomenclature of c.(10156+1_10157-1)_(11174+1_11175-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frameshift in the PKHD1 gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes (gnomAD, Structural Variants dataset). To our knowledge, no occurrence of c.(10156+1_10157-1)_(11174+1_11175-1)del in individuals affected with Polycystic Kidney And Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |