ClinVar Miner

Submissions for variant NM_003630.3(PEX3):c.292_302del (p.Ser98fs)

dbSNP: rs748689554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Elsea Laboratory, Baylor College of Medicine RCV001250050 SCV001424202 pathogenic Peroxisome biogenesis disorder 10A (Zellweger) 2020-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001879770 SCV002242471 pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser98Argfs*43) in the PEX3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX3 are known to be pathogenic (PMID: 10942428, 21031596). This variant is present in population databases (rs748689554, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX3-related conditions. ClinVar contains an entry for this variant (Variation ID: 973435). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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