ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.510_511del (p.Asp172fs)

gnomAD frequency: 0.00001  dbSNP: rs61753211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987703 SCV001137122 pathogenic Peroxisome biogenesis disorder 4A (Zellweger) 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549683 SCV002994832 pathogenic Peroxisome biogenesis disorder 2023-06-03 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: 802216). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Asp172Glnfs*69) 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).

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