ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)

gnomAD frequency: 0.00001  dbSNP: rs398123409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078919 SCV000110779 pathogenic not provided 2012-09-28 criteria provided, single submitter clinical testing
Counsyl RCV000672527 SCV000797639 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854392 SCV002108571 pathogenic Zellweger spectrum disorders 2023-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln744*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 21031596, 26387595, 31831025). This variant is present in population databases (rs398123409, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 93104). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003474678 SCV004203274 pathogenic Heimler syndrome 1 2024-03-16 criteria provided, single submitter clinical testing

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