ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1877_1915dup (p.Pro638_Gln639insArgAspLeuSerThrLeuLeuThrMetPheGlyLeuPro)

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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 RCV003052297 SCV003349668 uncertain significance Peroxisome biogenesis disorder 2B 2022-04-28 criteria provided, single submitter clinical testing This variant, c.1877_1915dup, results in the insertion of 13 amino acid(s) of the PEX5 protein (p.Arg626_Pro638dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. 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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