ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.689_690dup (p.Ser232fs)

dbSNP: rs398123305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173099 SCV000224183 pathogenic not provided 2013-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001212193 SCV001383769 pathogenic Peroxisome biogenesis disorder 2019-05-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser232Hisfs*15) in the PEX6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Zellweger syndrome (PMID: 17041890, 19877282). ClinVar contains an entry for this variant (Variation ID: 92790). Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 8670792, 19877282, 21031596). For these reasons, this variant has been classified as Pathogenic.

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