Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231027 | SCV001403530 | uncertain significance | Zellweger spectrum disorders | 2022-10-13 | criteria provided, single submitter | clinical testing | 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. 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 PEX1 protein function. ClinVar contains an entry for this variant (Variation ID: 957949). This missense change has been observed in individual(s) with Zellweger syndrome (PMID: 16088892). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 998 of the PEX1 protein (p.Arg998Gln). |
Natera, |
RCV001231027 | SCV002076828 | uncertain significance | Zellweger spectrum disorders | 2020-06-19 | no assertion criteria provided | clinical testing |