ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.148-18T>C

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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 RCV002791213 SCV003199429 uncertain significance Peroxisome biogenesis disorder 2B 2022-05-22 criteria provided, single submitter clinical testing 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 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. This sequence change falls in intron 2 of the PEX5 gene. It does not directly change the encoded amino acid sequence of the PEX5 protein. This variant is not present in population databases (gnomAD no frequency).

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