Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001066713 | SCV001231730 | uncertain significance | Peroxisome biogenesis disorder 12A (Zellweger) | 2022-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 223 of the PEX19 protein (p.Ser223Gly). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 860421). This variant has not been reported in the literature in individuals affected with PEX19-related conditions. This variant is present in population databases (rs778154365, gnomAD 0.02%). |
| Ambry Genetics | RCV003160550 | SCV003882876 | uncertain significance | Inborn genetic diseases | 2023-02-07 | criteria provided, single submitter | clinical testing | The c.667A>G (p.S223G) alteration is located in exon 6 (coding exon 6) of the PEX19 gene. This alteration results from a A to G substitution at nucleotide position 667, causing the serine (S) at amino acid position 223 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |