ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.920C>T (p.Pro307Leu)

gnomAD frequency: 0.00002  dbSNP: rs1159586988
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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 RCV001961797 SCV002255100 uncertain significance Peroxisome biogenesis disorder 2B 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 307 of the PEX5 protein (p.Pro307Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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