ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.795_796del (p.Arg265fs)

dbSNP: rs1553231787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668448 SCV000793053 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2017-07-27 criteria provided, single submitter clinical testing
Invitae RCV001861767 SCV002232126 pathogenic Peroxisome biogenesis disorder, complementation group 7 2022-08-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the PEX10 protein. Other variant(s) that result in a similarly extended protein product (p.Leu292Valfs*66) have been determined to be pathogenic (PMID: 9700193, 10862081, 12794690, 17041890, 19142205, 21031596). This suggests that these extensions are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 553074). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the PEX10 gene (p.Arg285Serfs*73). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 62 amino acid(s) of the PEX10 protein and extend the protein by 10 additional amino acid residues.

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