Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV002293410 | SCV002586493 | pathogenic | not provided | 2024-12-26 | criteria provided, single submitter | clinical testing | Segregates with disease in affected individuals from a single family in published literature (PMID: 8554072); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 22008521, 30333007, 36186434, 8554072) |
| Victorian Clinical Genetics Services, |
RCV000008682 | SCV005086290 | pathogenic | Polycystic kidney disease, adult type | 2023-07-17 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with polycystic kidney disease 1 (MIM#173900). (I) 0107 - This gene is associated with autosomal dominant disease. Polycystic kidney disease 1 (MIM#173900) is predominantly caused by monoallelic variants, with rare reports of biallelic variants causing disease (OMIM). (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER). (SP) 0802 - This variant has moderate previous evidence of pathogenicity in unrelated individuals. This variant has been reported in at least four unrelated individuals with polycystic kidney disease (ClinVar, LOVD, https://pkdb.mayo.edu/). (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
| Fulgent Genetics, |
RCV000008682 | SCV005638771 | pathogenic | Polycystic kidney disease, adult type | 2024-02-07 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV000008682 | SCV005913938 | pathogenic | Polycystic kidney disease, adult type | 2021-12-22 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000008682 | SCV000028891 | pathogenic | Polycystic kidney disease, adult type | 1996-01-01 | no assertion criteria provided | literature only |