ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1182G>A (p.Arg394=)

dbSNP: rs199624284
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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 RCV001360543 SCV001556468 uncertain significance Peroxisome biogenesis disorder 2B 2022-04-07 criteria provided, single submitter clinical testing This sequence change affects codon 394 of the PEX5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PEX5 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs199624284, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1052375). 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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