ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3767+1_3767+2dup

dbSNP: rs1383361108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672438 SCV000797543 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868264 SCV002305069 uncertain significance Zellweger spectrum disorders 2022-11-22 criteria provided, single submitter clinical testing 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. 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 556432). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 23 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.

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