ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup)

dbSNP: rs1554128546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668403 SCV000792997 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2017-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530746 SCV003314051 uncertain significance Peroxisome biogenesis disorder 2022-07-25 criteria provided, single submitter clinical testing This variant, c.254_259dup, results in the insertion of 2 amino acid(s) of the PEX6 protein (p.Ala85_Leu86dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 553033). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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