ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.931C>G (p.Arg311Gly)

dbSNP: rs765965290
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001975733 SCV002250209 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2021-05-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 331 of the PEX10 protein (p.Arg331Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX10-related conditions. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Arg331 amino acid residue in PEX10. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27230853, 20695019). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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