ClinVar Miner

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

dbSNP: rs766020928
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Total submissions: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV002230732 SCV000942109 pathogenic Zellweger spectrum disorders 2023-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 371688). Disruption of the initiator codon has been observed in individuals with Zellweger syndrome spectrum disorder (PMID: 21031596). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the PEX1 mRNA. The next in-frame methionine is located at codon 209.
Fulgent Genetics, Fulgent Genetics RCV005044618 SCV005669747 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2024-03-14 criteria provided, single submitter clinical testing

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