ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1769G>C (p.Arg590Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002975095 SCV003280418 uncertain significance Peroxisome biogenesis disorder 2B 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 590 of the PEX5 protein (p.Arg590Pro). 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. 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: "Tolerated"; 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.
Ambry Genetics RCV002975094 SCV003597396 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.1769G>C (p.R590P) alteration is located in exon 16 (coding exon 15) of the PEX5 gene. This alteration results from a G to C substitution at nucleotide position 1769, causing the arginine (R) at amino acid position 590 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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