ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.390C>G (p.Ser130Arg)

gnomAD frequency: 0.00001  dbSNP: rs1425257705
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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 RCV001248067 SCV001421532 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 130 of the PEX10 protein (p.Ser130Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 972109). 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 tolerated. 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 RCV003426015 SCV004117817 uncertain significance PEX10-related disorder 2023-10-12 criteria provided, single submitter clinical testing The PEX10 c.390C>G variant is predicted to result in the amino acid substitution p.Ser130Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-2340101-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001830028 SCV002094134 uncertain significance Zellweger spectrum disorders 2021-06-03 no assertion criteria provided clinical testing

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