ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1A>C (p.Met1Leu)

dbSNP: rs1057517501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667385 SCV000791820 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2017-05-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091386 SCV001247405 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767954 SCV004671685 pathogenic Zellweger spectrum disorders 2024-01-24 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 syndrome (PMID: 21031596, 28468868). ClinVar contains an entry for this variant (Variation ID: 552166). For these reasons, this variant has been classified as Pathogenic.

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