ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.656del (p.Gln219fs)

dbSNP: rs267608202
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231570 SCV001404098 pathogenic Peroxisome biogenesis disorder 2021-11-08 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Zellweger syndrome (PMID: 19877282). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 958409). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln219Argfs*27) 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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