ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1742_1756del (p.Arg581_Ser585del)

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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 RCV002917912 SCV003251559 pathogenic Zellweger spectrum disorders 2021-12-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PEX1 protein in which other variant(s) (p.Arg581Pro) have been determined to be pathogenic (PMID: 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 PEX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1742_1756del, results in the deletion of 5 amino acid(s) of the PEX1 protein (p.Arg581_Ser585del), but otherwise preserves the integrity of the reading frame.

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