ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.486_496del (p.Ala163fs)

dbSNP: rs2100428385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386364 SCV001586556 pathogenic Peroxisome biogenesis disorder, complementation group 7 2022-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala163Profs*70) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073376). 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).

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