ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1280G>A (p.Arg427Gln)

gnomAD frequency: 0.00004  dbSNP: rs774915360
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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 RCV001351858 SCV001546362 uncertain significance Peroxisome biogenesis disorder 2B 2022-01-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 427 of the PEX5 protein (p.Arg427Gln). This variant is present in population databases (rs774915360, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047181). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002547540 SCV003694714 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.1280G>A (p.R427Q) alteration is located in exon 13 (coding exon 12) of the PEX5 gene. This alteration results from a G to A substitution at nucleotide position 1280, causing the arginine (R) at amino acid position 427 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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