ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.967-3dup

gnomAD frequency: 0.00001  dbSNP: rs777815209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729738 SCV000857425 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001300680 SCV001489829 uncertain significance Peroxisome biogenesis disorder 2B 2021-09-18 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the PEX5 gene. It does not directly change the encoded amino acid sequence of the PEX5 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs777815209, ExAC 0.005%). This variant has not been reported in the literature in individuals with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 594445). Nucleotide substitutions within 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 disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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