ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2301C>T (p.Ser767=)

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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 RCV003009060 SCV003296660 uncertain significance Peroxisome biogenesis disorder 2022-07-21 criteria provided, single submitter clinical testing This sequence change affects codon 767 of the PEX6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PEX6 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs748898941, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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