ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1108del (p.Ile370fs)

dbSNP: rs61750406
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411495 SCV000487737 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-10-07 criteria provided, single submitter clinical testing
Counsyl RCV000409071 SCV000487738 likely pathogenic Peroxisome biogenesis disorder 1B 2016-10-07 criteria provided, single submitter clinical testing
Invitae RCV001210281 SCV001381760 pathogenic Zellweger spectrum disorders 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile370Leufs*17) 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: 21031596, 26387595, 31831025). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371779). For these reasons, this variant has been classified as Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810874 SCV001474064 likely pathogenic not provided 2020-04-03 criteria provided, single submitter clinical testing
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV000411495 SCV004031429 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2023-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475990 SCV004203347 likely pathogenic Heimler syndrome 1 2023-05-18 criteria provided, single submitter clinical testing

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