ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.418-3T>C

gnomAD frequency: 0.00006  dbSNP: rs770117560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343386 SCV001537364 uncertain significance Peroxisome biogenesis disorder 9B 2021-08-27 criteria provided, single submitter clinical testing This sequence change falls in intron 4 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 of the intron. This variant is present in population databases (rs770117560, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. 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.
Natera, Inc. RCV001836334 SCV002077244 uncertain significance Rhizomelic chondrodysplasia punctata 2020-12-01 no assertion criteria provided clinical testing

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