ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.274C>G (p.Arg92Gly)

dbSNP: rs1214996893
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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 RCV001235099 SCV001407766 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-06-30 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 961415). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 92 of the PEX10 protein (p.Arg92Gly).
PreventionGenetics, part of Exact Sciences RCV003405426 SCV004110881 uncertain significance PEX10-related disorder 2023-03-14 criteria provided, single submitter clinical testing The PEX10 c.274C>G variant is predicted to result in the amino acid substitution p.Arg92Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-2340217-G-C). 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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