ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1560T>C (p.Asn520=)

gnomAD frequency: 0.00001  dbSNP: rs140330381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001911810 SCV002174608 uncertain significance Peroxisome biogenesis disorder 2B 2022-02-11 criteria provided, single submitter clinical testing This sequence change affects codon 520 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 (rs140330381, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PEX5-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.
PreventionGenetics, part of Exact Sciences RCV003911087 SCV004719553 likely benign PEX5-related disorder 2019-07-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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