ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2T>G (p.Met1Arg) (rs766020928)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410653 SCV000487427 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2015-11-19 criteria provided, single submitter clinical testing
Counsyl RCV000411721 SCV000487428 likely pathogenic Peroxisome biogenesis disorder 1B 2015-11-19 criteria provided, single submitter clinical testing
Invitae RCV000410653 SCV000942109 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-09-17 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 (ExAC no frequency). Disruptions of the initiator codon have been observed in individuals affected with Zellweger syndrome spectrum disorder (PMID: 21031596). ClinVar contains an entry for this variant (Variation ID: 371688). For these reasons, this variant has been classified as Pathogenic.

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