Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033544 | SCV001196851 | uncertain significance | Peroxisome biogenesis disorder 1A (Zellweger) | 2019-11-06 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 24 of the PEX1 gene. The 5' boundary is likely confined to intron 23. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has been observed in individual(s) with clinical features of Zellweger syndrome (Invitae). 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. |