ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)

dbSNP: rs1057517468
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412134 SCV000487477 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2015-12-28 criteria provided, single submitter clinical testing
Counsyl RCV000410160 SCV000487478 likely pathogenic Peroxisome biogenesis disorder 1B 2015-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523885 SCV002942570 pathogenic Zellweger spectrum disorders 2023-05-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371699). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln713*) 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 RCV003475978 SCV004203263 likely pathogenic Heimler syndrome 1 2023-10-21 criteria provided, single submitter clinical testing

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