Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000734189 | SCV000862313 | uncertain significance | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001247678 | SCV001421115 | uncertain significance | Peroxisome biogenesis disorder 11A (Zellweger) | 2022-10-28 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 118 of the PEX13 protein (p.Phe118Tyr). This variant is present in population databases (rs749542687, gnomAD 0.01%). 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: 597929). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PEX13 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. |
| Ambry Genetics | RCV002536513 | SCV003545344 | uncertain significance | Inborn genetic diseases | 2022-06-17 | criteria provided, single submitter | clinical testing | The c.353T>A (p.F118Y) alteration is located in exon 2 (coding exon 2) of the PEX13 gene. This alteration results from a T to A substitution at nucleotide position 353, causing the phenylalanine (F) at amino acid position 118 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |