ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3G>A (p.Met1Ile)

dbSNP: rs786204704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169518 SCV000220989 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2014-12-24 criteria provided, single submitter literature only
Invitae RCV003593925 SCV004294512 pathogenic Zellweger spectrum disorders 2023-12-12 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PEX1 mRNA. The next in-frame methionine is located at codon 209. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with Zellweger spectrum disorder (PMID: 21031596, 28468868). ClinVar contains an entry for this variant (Variation ID: 189106). For these reasons, this variant has been classified as Pathogenic.

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