Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000007949 | SCV000220370 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2014-06-05 | criteria provided, single submitter | literature only | |
Fulgent Genetics, |
RCV000763597 | SCV000894442 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001248383 | SCV001421866 | likely pathogenic | Zellweger spectrum disorders | 2023-07-24 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects PEX1 function (PMID: 9539740, 11439091). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PEX1 protein function. ClinVar contains an entry for this variant (Variation ID: 7517). This missense change has been observed in individual(s) with Zellweger syndrome (PMID: 9539740). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 664 of the PEX1 protein (p.Leu664Pro). |
Baylor Genetics | RCV003473054 | SCV004203304 | likely pathogenic | Heimler syndrome 1 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV003480024 | SCV004227040 | likely pathogenic | not provided | 2023-04-12 | criteria provided, single submitter | clinical testing | PP3, PM2, PS3 |
OMIM | RCV000007949 | SCV000028154 | pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 1998-04-14 | no assertion criteria provided | literature only | |
Natera, |
RCV001248383 | SCV002076881 | uncertain significance | Zellweger spectrum disorders | 2020-08-12 | no assertion criteria provided | clinical testing |