ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs)

dbSNP: rs1926403854
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246197 SCV001419537 pathogenic Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2023-07-14 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 PEX26-related conditions. This sequence change creates a premature translational stop signal (p.Arg61Profs*21) in the PEX26 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX26 are known to be pathogenic (PMID: 12851857, 21031596). This variant is present in population databases (rs745673881, gnomAD 0.003%).

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