Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725930 | SCV000340601 | uncertain significance | not provided | 2016-04-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725930 | SCV000709889 | likely pathogenic | not provided | 2020-05-18 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 15542397) |
Invitae | RCV000639508 | SCV000761083 | pathogenic | Peroxisome biogenesis disorder | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 10 of the PEX6 gene. It does not directly change the encoded amino acid sequence of the PEX6 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs772869377, gnomAD 0.02%). This variant has been observed in individuals with Zellweger syndrome (PMID: 15542397, 21520333; Invitae). ClinVar contains an entry for this variant (Variation ID: 286981). Studies have shown that this variant results in insertion of additional nucleotides and introduces a premature termination codon (PMID: 21520333; external communication). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
Mayo Clinic Laboratories, |
RCV000725930 | SCV001714164 | uncertain significance | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003475912 | SCV004201526 | likely pathogenic | Heimler syndrome 2 | 2023-10-16 | criteria provided, single submitter | clinical testing |