ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1903_1906del (p.Phe635fs)

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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 RCV002810217 SCV003202263 uncertain significance Peroxisome biogenesis disorder 2B 2022-05-22 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 results in a frameshift in the PEX5 gene (p.Phe635Alafs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acid(s) of the PEX5 protein and extend the protein by 18 additional amino acid residues.

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