Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001794671 | SCV002032546 | uncertain significance | not provided | 2022-06-27 | criteria provided, single submitter | clinical testing | Observed in a patient with a clinical diagnosis of ARPKD in published literature, but additional information is not available (Sharp et al., 2005); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32457805, 15805161) |
Invitae | RCV002074119 | SCV002414525 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003931336 | SCV004742122 | uncertain significance | PKHD1-related disorder | 2023-12-06 | criteria provided, single submitter | clinical testing | The PKHD1 c.11737C>T variant is predicted to result in the amino acid substitution p.Arg3913Cys. This variant was reported in an individual with polycystic kidney disease (Sharp et al 2005. PubMed ID: 15805161; Mantovani V et al 2020. PubMed ID: 32457805). This variant is reported in 0.064% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51491843-G-A), which may be too common to be causative of disease. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |