ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.428G>A (p.Arg143His)

gnomAD frequency: 0.00005  dbSNP: rs766596553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002004129 SCV002291008 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 143 of the PEX10 protein (p.Arg143His). This variant is present in population databases (rs766596553, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1505575). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481248 SCV004227716 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing BP4
Ambry Genetics RCV004046152 SCV005003558 uncertain significance Inborn genetic diseases 2023-09-29 criteria provided, single submitter clinical testing The c.428G>A (p.R143H) alteration is located in exon 3 (coding exon 3) of the PEX10 gene. This alteration results from a G to A substitution at nucleotide position 428, causing the arginine (R) at amino acid position 143 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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