ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1138dup (p.Glu380fs)

dbSNP: rs2114248372
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946777 SCV002231748 pathogenic Peroxisome biogenesis disorder 2021-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu380Glyfs*5) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. For these reasons, this variant has been classified as Pathogenic.

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