Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531157 | SCV000629938 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-06-16 | criteria provided, single submitter | clinical testing | In summary, this variant has uncertain impact on PKHD1 function. The available evidence is currently insufficient to determine its role 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 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 a PKHD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 3242 of the PKHD1 protein (p.Gly3242Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. |