Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001358739 | SCV001554587 | likely benign | not specified | 2021-03-21 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.7734-21_7734-20dupTT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.001 in 246858 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in PKHD1 causing Polycystic Kidney And Hepatic Disease (0.001 vs 0.0071), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.7734-21_7734-20dupTT in individuals affected with Polycystic Kidney And Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. One locus specific database reports a likely benign outcome. 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 benign. |
| Invitae | RCV002070240 | SCV002421336 | benign | Autosomal recessive polycystic kidney disease | 2024-01-27 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002504583 | SCV002799834 | likely benign | Polycystic kidney disease 4 | 2021-08-19 | criteria provided, single submitter | clinical testing |