ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.757C>T (p.Arg253Cys)

dbSNP: rs756537855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730184 SCV000857903 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001054359 SCV001218669 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 273 of the PEX10 protein (p.Arg273Cys). This variant is present in population databases (rs756537855, gnomAD 0.003%). 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: 594805). 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: "Benign"; Align-GVGD: "Class C15"). 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.
Natera, Inc. RCV001830606 SCV002094110 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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