Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001340201 | SCV001534000 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-02-22 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PKHD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 1929 of the PKHD1 protein (p.Ser1929Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. |
| Fulgent Genetics, |
RCV002486370 | SCV002793676 | uncertain significance | Polycystic kidney disease 4 | 2021-07-27 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004035927 | SCV005005311 | uncertain significance | Inborn genetic diseases | 2023-12-17 | criteria provided, single submitter | clinical testing | The c.5786C>T (p.S1929F) alteration is located in exon 36 (coding exon 35) of the PKHD1 gene. This alteration results from a C to T substitution at nucleotide position 5786, causing the serine (S) at amino acid position 1929 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |