Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005240747 | SCV005885952 | uncertain significance | not specified | 2025-02-18 | criteria provided, single submitter | clinical testing | Variant summary: PKD1 c.8593C>T (p.Arg2865Trp) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00021 in 234074 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in PKD1 causing Polycystic Kidney Disease 1 (0.00021 vs 0.0005), allowing no conclusion about variant significance. c.8593C>T has been reported in the literature in individuals affected with clinical features of PKD1-related conditions (Rossetti_2012, Mallawaarachchi_2016, Saglia_2023). These report(s) do not provide unequivocal conclusions about association of the variant with Polycystic Kidney Disease 1. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 22383692, 27165007, 38012624). ClinVar contains an entry for this variant (Variation ID: 2582217). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Department of Pathology and Laboratory Medicine, |
RCV003332923 | SCV006055082 | uncertain significance | Polycystic kidney disease, adult type | 2022-09-12 | criteria provided, single submitter | clinical testing | |
| Immunogenetics and Transplant Biology Service, |
RCV003332923 | SCV004040461 | uncertain significance | Polycystic kidney disease, adult type | 2023-07-03 | no assertion criteria provided | clinical testing |