ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1415dup (p.Gly473fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003037154 SCV003439417 pathogenic Peroxisome biogenesis disorder 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly473Argfs*13) 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: 10408779, 21031596, 31831025). This variant is present in population databases (rs267608219, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Zellweger spectrum disease (PMID: 17041890). ClinVar contains an entry for this variant (Variation ID: 2136392). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475484 SCV004201534 pathogenic Heimler syndrome 2 2023-09-30 criteria provided, single submitter clinical testing

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