ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.525A>G (p.Ser175=)

gnomAD frequency: 0.00001  dbSNP: rs771080595
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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 RCV001957196 SCV002206790 uncertain significance Peroxisome biogenesis disorder 9B 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects codon 175 of the PEX7 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PEX7 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs771080595, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1424545). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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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