Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669293 | SCV000794033 | uncertain significance | Peroxisome biogenesis disorder 1A (Zellweger) | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000729582 | SCV000857255 | uncertain significance | not provided | 2017-10-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002531221 | SCV001204911 | likely pathogenic | Zellweger spectrum disorders | 2023-05-26 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. 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: 553776). This missense change has been observed in individual(s) with Zellweger spectrum disorders (PMID: 28446956, 32483926, 33955814). It has also been observed to segregate with disease in related individuals. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1026 of the PEX1 protein (p.Leu1026Pro). |
Baylor Genetics | RCV001332474 | SCV001524808 | uncertain significance | Peroxisome biogenesis disorder 1B | 2019-12-04 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Baylor Genetics | RCV003472113 | SCV004203315 | pathogenic | Heimler syndrome 1 | 2023-07-18 | criteria provided, single submitter | clinical testing |