ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1884+3G>A

gnomAD frequency: 0.00026  dbSNP: rs377041406
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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) RCV000596762 SCV000706296 uncertain significance not provided 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV001351936 SCV001546453 uncertain significance Peroxisome biogenesis disorder 2022-09-01 criteria provided, single submitter clinical testing This sequence change falls in intron 8 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 present in population databases (rs377041406, gnomAD 0.06%). 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: 500382). 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.
PreventionGenetics, part of Exact Sciences RCV003900333 SCV004714125 likely benign PEX6-related condition 2021-07-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001835870 SCV002077292 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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