Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001369755 | SCV001566203 | uncertain significance | Peroxisome biogenesis disorder 9B | 2021-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with asparagine at codon 156 of the PEX7 protein (p.Ser156Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (no rsID available, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with PEX7-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 asparagine 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. |
Preventiongenetics, |
RCV003416285 | SCV004106874 | uncertain significance | PEX7-related condition | 2023-08-30 | criteria provided, single submitter | clinical testing | The PEX7 c.467G>A variant is predicted to result in the amino acid substitution p.Ser156Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-137167260-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001831293 | SCV002077245 | uncertain significance | Rhizomelic chondrodysplasia punctata | 2020-10-15 | no assertion criteria provided | clinical testing |