Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001160293 | SCV001322083 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-08-22 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV001160293 | SCV001571090 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-08-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 19 of the PKHD1 protein (p.Arg19His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of polycystic kidney disease (PMID: 25701400). ClinVar contains an entry for this variant (Variation ID: 909294). 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: "Benign"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002491467 | SCV002776128 | uncertain significance | Polycystic kidney disease 4 | 2021-12-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001160293 | SCV002083428 | uncertain significance | Autosomal recessive polycystic kidney disease | 2019-03-14 | no assertion criteria provided | clinical testing |