Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788572 | SCV000927727 | likely pathogenic | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000813103 | SCV000953443 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with leucine at codon 372 of the PKHD1 protein (p.Phe372Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in an individual with autosomal recessive polycystic kidney disease (PMID: 15698423, 16677362). 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"). 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. |
Institute of Medical Genetics and Applied Genomics, |
RCV000788572 | SCV001446984 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing |