ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.470G>A (p.Arg157Lys)

gnomAD frequency: 0.00002  dbSNP: rs772618705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248621 SCV001422120 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 157 of the PEX10 protein (p.Arg157Lys). This variant is present in population databases (rs772618705, gnomAD 0.009%). 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: 972560). 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 lysine 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.
PreventionGenetics, part of Exact Sciences RCV003405456 SCV004115543 uncertain significance PEX10-related disorder 2022-10-07 criteria provided, single submitter clinical testing The PEX10 c.470G>A variant is predicted to result in the amino acid substitution p.Arg157Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0090% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-2340021-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001835341 SCV002094127 uncertain significance Zellweger spectrum disorders 2020-02-12 no assertion criteria provided clinical testing

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