ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.417_418del (p.Arg142fs)

gnomAD frequency: 0.00001  dbSNP: rs776590711
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003047520 SCV003342034 pathogenic Peroxisome biogenesis disorder, complementation group 7 2022-04-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is present in population databases (rs776590711, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg142Alafs*12) in the PEX10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596).

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