ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1108del (p.Ile370fs) (rs61750406)

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Total submissions: 4
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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 syndrome 2020-03-28 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. This variant is present in population databases (rs755998864, ExAC 0.5%). This variant has not been reported in the literature in individuals with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371779). Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). For these reasons, this variant has been classified as Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287378 SCV001474064 likely pathogenic none provided 2020-04-03 criteria provided, single submitter clinical testing

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