ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.601-72_601-71del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003079827 SCV003470003 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-09-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the PEX10 gene. It does not directly change the encoded amino acid sequence of the PEX10 protein. 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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