ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.248G>A (p.Arg83Gln)

gnomAD frequency: 0.00001  dbSNP: rs372894429
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040622 SCV001204207 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-03-10 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 83 of the PEX10 protein (p.Arg83Gln). This variant is present in population databases (rs372894429, gnomAD 0.006%). 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: 838963). 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001832401 SCV002094144 uncertain significance Zellweger spectrum disorders 2020-07-29 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751858 SCV005347553 uncertain significance PEX10-related disorder 2024-09-12 no assertion criteria provided clinical testing The PEX10 c.248G>A variant is predicted to result in the amino acid substitution p.Arg83Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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