ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)

gnomAD frequency: 0.00001  dbSNP: rs1010184002
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597333 SCV000703859 pathogenic not provided 2016-12-06 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV000735223 SCV000863431 likely pathogenic Peroxisome biogenesis disorder 4B 2018-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001384063 SCV001583440 pathogenic Peroxisome biogenesis disorder 2023-03-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp91*) in the PEX6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 8670792, 19877282, 21031596). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 498713). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471954 SCV004201570 likely pathogenic Heimler syndrome 2 2023-05-08 criteria provided, single submitter clinical testing
Counsyl RCV000735223 SCV000797119 likely pathogenic Peroxisome biogenesis disorder 4B 2018-01-12 no assertion criteria provided clinical testing

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