Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001987707 | SCV002225390 | uncertain significance | Peroxisome biogenesis disorder 11A (Zellweger) | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 332 of the PEX13 protein (p.Lys332Arg). This variant is present in population databases (no rsID available, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. ClinVar contains an entry for this variant (Variation ID: 1446512). 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
| Ambry Genetics | RCV002562952 | SCV003608190 | uncertain significance | Inborn genetic diseases | 2022-02-03 | criteria provided, single submitter | clinical testing | The c.995A>G (p.K332R) alteration is located in exon 4 (coding exon 4) of the PEX13 gene. This alteration results from a A to G substitution at nucleotide position 995, causing the lysine (K) at amino acid position 332 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Prevention |
RCV004552130 | SCV004711959 | uncertain significance | PEX13-related disorder | 2023-10-27 | no assertion criteria provided | clinical testing | The PEX13 c.995A>G variant is predicted to result in the amino acid substitution p.Lys332Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |