ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.383_384GA[1] (p.Glu129fs) (rs1554128501)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671385 SCV000796356 likely pathogenic Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 2017-12-12 criteria provided, single submitter clinical testing
Invitae RCV001060445 SCV001225132 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu129Profs*28) in the PEX6 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 555544). 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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