ClinVar Miner

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

dbSNP: rs886041314
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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 RCV003536862 SCV004319378 pathogenic Peroxisome biogenesis disorder, complementation group 7 2023-08-29 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PEX10 mRNA. The next in-frame methionine is located at codon 145. This variant is not present in population databases (gnomAD no frequency). 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. For these reasons, this variant has been classified as Pathogenic.

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