Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595432 | SCV000703405 | uncertain significance | not provided | 2017-09-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764730 | SCV000895865 | uncertain significance | Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000797623 | SCV000937191 | uncertain significance | Zellweger spectrum disorders | 2022-10-18 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 417 of the PEX1 protein (p.Asp417Asn). This variant is present in population databases (rs143273433, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 498412). 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 not expected to disrupt PEX1 protein function. 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. |
Gene |
RCV000595432 | SCV001985972 | uncertain significance | not provided | 2020-02-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002532417 | SCV003677240 | uncertain significance | Inborn genetic diseases | 2022-07-25 | criteria provided, single submitter | clinical testing | The c.1249G>A (p.D417N) alteration is located in exon 6 (coding exon 6) of the PEX1 gene. This alteration results from a G to A substitution at nucleotide position 1249, causing the aspartic acid (D) at amino acid position 417 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000797623 | SCV001464253 | uncertain significance | Zellweger spectrum disorders | 2017-11-14 | no assertion criteria provided | clinical testing |