ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter)

dbSNP: rs1478799269
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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 RCV001226510 SCV001398826 pathogenic Peroxisome biogenesis disorder 2022-06-23 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: 954112). This premature translational stop signal has been observed in individual(s) with Zellweger spectrum disorder (PMID: 31555682). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Cys358*) 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).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796379 SCV005417916 pathogenic Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PP4

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