ClinVar Miner

Submissions for variant NM_001122764.3(PPOX):c.471+3G>A

gnomAD frequency: 0.00037  dbSNP: rs200920978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000384355 SCV000350100 uncertain significance Variegate porphyria 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859751 SCV002167063 uncertain significance not provided 2025-01-08 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs200920978, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with PPOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 293251). 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 is not likely to affect RNA splicing. 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.

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