ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1326dup (p.Ser443fs)

dbSNP: rs2114247458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782605 SCV002021673 likely pathogenic not provided 2021-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541207 SCV003287969 pathogenic Peroxisome biogenesis disorder 2022-07-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1324885). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser443Valfs*2) 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).
Baylor Genetics RCV003475092 SCV004201552 likely pathogenic Heimler syndrome 2 2023-07-26 criteria provided, single submitter clinical testing

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