ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.8C>G (p.Pro3Arg)

gnomAD frequency: 0.00001  dbSNP: rs528381804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002010227 SCV002282911 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 3 of the PEX10 protein (p.Pro3Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. 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 arginine 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.

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