ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1792del (p.Thr598fs)

dbSNP: rs886037783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV000240738 SCV000264807 pathogenic Heimler syndrome 1 2015-10-01 criteria provided, single submitter research Newly identified
Labcorp Genetics (formerly Invitae), Labcorp RCV001383603 SCV001582805 pathogenic Zellweger spectrum disorders 2020-03-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). This variant has been observed in individual(s) with Heimler syndrome (PMID: 27302843). ClinVar contains an entry for this variant (Variation ID: 224324). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr598Glnfs*11) in the PEX1 gene. It is expected to result in an absent or disrupted protein product.

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