ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.573_882+237delinsTGGTCA

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003646566 SCV004446477 pathogenic Peroxisome biogenesis disorder 2023-03-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PEX6 protein in which other variant(s) (p.Pro274Leu) have been determined to be pathogenic (PMID: 15542397, 19877282, 24016303, 26387595). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with PEX6-related conditions. This variant results in the deletion of part of exon 1 (c.573_882+237delinsTGGTCA) of the PEX6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PEX6 are known to be pathogenic (PMID: 8670792, 19877282, 21031596).

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