Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599473 | SCV000710444 | likely pathogenic | not provided | 2018-01-16 | criteria provided, single submitter | clinical testing | The c.624dupA variant in the PEX2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.624dupA variant causes a frameshift starting with codon Proline 209, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 24 of the new reading frame, denoted p.Pro209ThrfsX24. This variant is predicted to cause loss of normal protein function through protein truncation. The c.624dupA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.624dupA as a likely pathogenic variant. |
Eurofins Ntd Llc |
RCV000599473 | SCV000858939 | pathogenic | not provided | 2018-01-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000599473 | SCV002021671 | likely pathogenic | not provided | 2020-11-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532697 | SCV003560760 | pathogenic | Inborn genetic diseases | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.624dupA (p.P209Tfs*24) alteration, located in exon 4 (coding exon 1) of the PEX2 gene, consists of a duplication of 1 nucleotide at position 624, causing a translational frameshift with a predicted alternate stop codon after 24 amino acids. This alteration occurs at the 3' terminus of the PEX2 gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 32% of the protein. Premature stop codons are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). Based on data from gnomAD, this allele has an overall frequency of <0.01% (1/31384) total alleles studied. Based on the available evidence, this alteration is classified as pathogenic. |
Baylor Genetics | RCV004568319 | SCV005055257 | likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger) | 2024-02-13 | criteria provided, single submitter | clinical testing |