Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gharavi Laboratory, |
RCV000681776 | SCV000809239 | pathogenic | not provided | 2018-09-16 | criteria provided, single submitter | research | |
| ARUP Laboratories, |
RCV000681776 | SCV000885932 | likely pathogenic | not provided | 2017-07-27 | criteria provided, single submitter | clinical testing | |
| Blueprint Genetics | RCV000681776 | SCV000927606 | pathogenic | not provided | 2018-03-21 | criteria provided, single submitter | clinical testing | |
| Molecular Biology Laboratory, |
RCV001281154 | SCV001425161 | pathogenic | Polycystic kidney disease, adult type | 2020-02-01 | criteria provided, single submitter | research | |
| 3billion | RCV001281154 | SCV002572788 | likely pathogenic | Polycystic kidney disease, adult type | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense) is predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by less than 10%. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000562326 / PMID: 19686598). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |
| Victorian Clinical Genetics Services, |
RCV001281154 | SCV002766770 | pathogenic | Polycystic kidney disease, adult type | 2022-03-31 | 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) 0205 - Variant is predicted to result in a truncated protein (premature termination codon is NOT located at least 54 nucleotides upstream of the final exon-exon junction) with less than 1/3 of the protein sequence affected. (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0600 - Variant is predicted to truncate part of the coiled-coil region (DECIPHER). (I) 0701 - Other protein truncating variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (ClinVar, PMID: 32398770, PMID: 22508176). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported in multiple individuals with autosomal dominant polycystic kidney disease (ClinVar, PMIDs: 33168999, 19686598, 22508176, 29529603, 32398770, 27499327, 33532864). (SP) 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, |
RCV001281154 | SCV002812578 | pathogenic | Polycystic kidney disease, adult type | 2021-09-01 | criteria provided, single submitter | clinical testing |