Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gharavi Laboratory, |
RCV000681668 | SCV000809114 | pathogenic | not provided | 2018-09-16 | criteria provided, single submitter | research | |
Molecular Genetics of Inherited Kidney Disorders Laboratory, |
RCV000681668 | SCV001422332 | uncertain significance | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000681668 | SCV002498861 | likely pathogenic | not provided | 2022-04-04 | criteria provided, single submitter | clinical testing | Published in vitro functional studies demonstrate a damaging effect through resistance to GPS cleavage required for PC1 trafficking to cilia (Cai et al., 2014); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 12007219, 31085678, 33437033, 22508176, 25365220, 18791038, 11115377, 23431072) |
Athena Diagnostics Inc | RCV000681668 | SCV004229849 | likely pathogenic | not provided | 2023-03-17 | criteria provided, single submitter | clinical testing | This variant has been identified in multiple unrelated individuals with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 25365220) Computational tools predict that this variant is damaging. The variant is located in a region that is considered important for protein function and/or structure. |