ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.803+4C>G

gnomAD frequency: 0.00001  dbSNP: rs759745913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509295 SCV001715917 uncertain significance not provided 2020-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501741 SCV002784279 uncertain significance Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564280 SCV003483133 uncertain significance Peroxisome biogenesis disorder 9B 2022-07-19 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the PEX7 gene. It does not directly change the encoded amino acid sequence of the PEX7 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs759745913, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163858). 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 disrupt the consensus splice site. 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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