ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)

dbSNP: rs754983126
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412445 SCV000487440 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2015-12-09 criteria provided, single submitter clinical testing
Counsyl RCV000410009 SCV000487441 likely pathogenic Peroxisome biogenesis disorder 1B 2015-12-09 criteria provided, single submitter clinical testing
Invitae RCV002523884 SCV003227036 pathogenic Zellweger spectrum disorders 2022-08-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 371690). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is present in population databases (rs754983126, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu510*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596, 26387595, 31831025).
Baylor Genetics RCV003475975 SCV004203393 likely pathogenic Heimler syndrome 1 2022-04-07 criteria provided, single submitter clinical testing

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