ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.42C>A (p.Thr14=)

dbSNP: rs1375938727
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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 RCV001936972 SCV002225991 uncertain significance Peroxisome biogenesis disorder 2021-07-12 criteria provided, single submitter clinical testing This sequence change affects codon 14 of the PEX6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PEX6 protein. 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 affected with PEX6-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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