Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002285671 | SCV002575272 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | Observed in trans with a second variant in a patient with prenatal-onset polycystic kidneys in published literature (Durkie et al., 2021); of note, this variant was inherited from an unaffected parent with a family history of polycystic kidney disease; In-frame deletion of 2 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33168999) |