Total submissions: 6
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 | |
Labcorp Genetics |
RCV002531221 | SCV001204911 | likely pathogenic | Zellweger spectrum disorders | 2024-03-18 | criteria provided, single submitter | clinical testing | 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). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Zellweger spectrum disorders (PMID: 28446956, 32483926, 33955814, 35322241). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 553776). 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 with a positive predictive value of 80%. 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. |
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 | 2024-03-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000729582 | SCV005327860 | likely pathogenic | not provided | 2023-08-18 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32483926, 35322241, 33708531, 31374812, 36511274, Parsamanesh2021[Case Report], 28446956, 33955814) |