Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Victorian Clinical Genetics Services, |
RCV002471134 | SCV002769159 | pathogenic | Polycystic liver disease 2 | 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 liver disease 2 (MIM#617004). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0115 - Variants in this gene are known to have variable expressivity. Different individuals with the same variant can show a marked variation in disease phenotype from having hepatomegaly and more than 20 cysts to only having a few small cysts (PMID: 20095989). (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) 0302 - Variant is present in gnomAD (v2) <0.001 for a dominant condition (3 heterozygotes, 0 homozygotes). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. Other NMD predicted variants have been reported as pathogenic in individuals with polycystic liver disease (ClinVar, PMID: 20095989). (SP) 0803 - This variant has limited previous evidence of pathogenicity in an unrelated individual. This variant has been reported in an individual with polycystic liver disease (PMID: 20095989). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
Laboratory of Gastroenterology and Hepatology, |
RCV001844962 | SCV001876894 | pathogenic | Autosomal dominant polycystic liver disease | 2021-09-01 | no assertion criteria provided | research | |
Genomics And Bioinformatics Analysis Resource, |
RCV002471134 | SCV004024079 | likely pathogenic | Polycystic liver disease 2 | no assertion criteria provided | research |