ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3208-3T>C

gnomAD frequency: 0.00001  dbSNP: rs763767937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237503 SCV001410266 uncertain significance Zellweger spectrum disorders 2022-02-10 criteria provided, single submitter clinical testing This sequence change falls in intron 20 of the PEX1 gene. It does not directly change the encoded amino acid sequence of the PEX1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs763767937, gnomAD 0.003%). 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: 963473). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
3billion, Medical Genetics RCV004727025 SCV005328698 likely benign Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Natera, Inc. RCV001237503 SCV002076819 uncertain significance Zellweger spectrum disorders 2018-09-03 no assertion criteria provided clinical testing

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