Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000384355 | SCV000350100 | uncertain significance | Variegate porphyria | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001859751 | SCV002167063 | uncertain significance | not provided | 2023-05-19 | criteria provided, single submitter | clinical testing | 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 293251). This variant has not been reported in the literature in individuals affected with PPOX-related conditions. This variant is present in population databases (rs200920978, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change falls in intron 5 of the PPOX gene. It does not directly change the encoded amino acid sequence of the PPOX protein. It affects a nucleotide within the consensus splice site. |