ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.677G>A (p.Arg226Gln)

gnomAD frequency: 0.00006  dbSNP: rs775953595
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593604 SCV000705051 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
Invitae RCV001204761 SCV001375982 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-10-24 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 226 of the PEX13 protein (p.Arg226Gln). This variant is present in population databases (rs775953595, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. ClinVar contains an entry for this variant (Variation ID: 499526). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX13 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002483607 SCV002790811 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B 2022-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531049 SCV003705397 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.677G>A (p.R226Q) alteration is located in exon 2 (coding exon 2) of the PEX13 gene. This alteration results from a G to A substitution at nucleotide position 677, causing the arginine (R) at amino acid position 226 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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