ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1691del (p.Cys564fs)

dbSNP: rs2114242920
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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 RCV001383499 SCV001582650 pathogenic Peroxisome biogenesis disorder 2023-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys564Serfs*55) 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 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: 1071121). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473945 SCV004201561 likely pathogenic Heimler syndrome 2 2023-06-26 criteria provided, single submitter clinical testing

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