ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu)

dbSNP: rs748956654
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480471 SCV000569744 likely pathogenic not provided 2023-02-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34534157, 27290639, 31597922)
Labcorp Genetics (formerly Invitae), Labcorp RCV001856846 SCV002155523 uncertain significance Peroxisome biogenesis disorder 2B 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 600 of the PEX5 protein (p.Ser600Leu). This variant is present in population databases (rs748956654, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of PEX5-related conditions (PMID: 27290639). ClinVar contains an entry for this variant (Variation ID: 420777). 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: "Probably 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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