Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000681754 | SCV000928155 | pathogenic | not provided | 2019-01-03 | criteria provided, single submitter | clinical testing | |
Victorian Clinical Genetics Services, |
RCV002470949 | SCV002767438 | pathogenic | Polycystic kidney disease, adult type | 2022-02-02 | 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 (ClinVar). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. It has been reported at least ten families with autosomal dominant polycystic kidney disease (ClinVar, PKD database mayo clinic, PMID: 31740684). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
Athena Diagnostics Inc | RCV000681754 | SCV002771591 | pathogenic | not provided | 2022-04-05 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). |
Fulgent Genetics, |
RCV002470949 | SCV002784609 | pathogenic | Polycystic kidney disease, adult type | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000681754 | SCV003798703 | pathogenic | not provided | 2023-02-02 | criteria provided, single submitter | clinical testing | Frameshift 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: 34733539, 31740684, 30586318, 11115377) |
Gharavi Laboratory, |
RCV000681754 | SCV000809212 | pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |