Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002510293 | SCV002819334 | likely pathogenic | Polycystic kidney disease 2 | 2022-12-08 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 3 in the PKD2 gene. A presumed nomenclature of c.(709+1_710-1)_(843+1_844-1)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 PKD2 gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes in the gnomAD database (structural variants data set). c.(709+1_710-1)_(843+1_844-1)del has been reported in the literature in at-least one individual affected with autosomal dominant polycystic kidney disease (example: Mallawaarachchi_2016). 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. Based on the evidence outlined above, the variant was classified as likely pathogenic. |