Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633430 | SCV000754654 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 2579 of the PKHD1 protein (p.Ala2579Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs78361537, ExAC 0.1%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Eurofins Ntd Llc |
RCV000731742 | SCV000859591 | uncertain significance | not provided | 2018-02-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000731742 | SCV002558269 | uncertain significance | not provided | 2022-01-26 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV000633430 | SCV002078012 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-05-06 | no assertion criteria provided | clinical testing |