ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1688+3A>G

gnomAD frequency: 0.00001  dbSNP: rs111397663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731306 SCV000859107 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Invitae RCV001855760 SCV002110233 uncertain significance Peroxisome biogenesis disorder 2022-03-10 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the PEX6 gene. It does not directly change the encoded amino acid sequence of the PEX6 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 595686). 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 create or strengthen a splice site. 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.

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