ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.1A>C (p.Met1Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003536862 SCV004319378 pathogenic Peroxisome biogenesis disorder, complementation group 7 2023-08-29 criteria provided, single submitter clinical testing Disruption of the initiator codon has been observed in individual(s) with Zellweger spectrum disorder (PMID: 28320181). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the PEX10 mRNA. The next in-frame methionine is located at codon 145. For these reasons, this variant has been classified as Pathogenic.

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