ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1126del (p.Glu376fs)

gnomAD frequency: 0.00001  dbSNP: rs751829426
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004519 SCV001163564 pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382274 SCV001580955 pathogenic Zellweger spectrum disorders 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu376Lysfs*11) 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 (rs751829426, gnomAD 0.009%). 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: 813450). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473550 SCV004203300 likely pathogenic Heimler syndrome 1 2024-01-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782624 SCV005395054 pathogenic Peroxisome biogenesis disorder 2024-09-10 criteria provided, single submitter clinical testing Variant summary: PEX1 c.1126delG (p.Glu376LysfsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.2e-05 in 251396 control chromosomes. To our knowledge, no occurrence of c.1126delG in individuals affected with Zellweger Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 813450). Based on the evidence outlined above, the variant was classified as pathogenic.

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