ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.247C>T (p.Arg83Trp)

gnomAD frequency: 0.00004  dbSNP: rs377135853
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593953 SCV000702831 uncertain significance not provided 2016-10-17 criteria provided, single submitter clinical testing
Invitae RCV001239387 SCV001412260 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-09-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 83 of the PEX10 protein (p.Arg83Trp). This variant is present in population databases (rs377135853, gnomAD 0.006%). 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: 498023). 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 C0"). 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.
Ambry Genetics RCV003243205 SCV003939609 uncertain significance Inborn genetic diseases 2023-05-08 criteria provided, single submitter clinical testing The c.247C>T (p.R83W) alteration is located in exon 3 (coding exon 3) of the PEX10 gene. This alteration results from a C to T substitution at nucleotide position 247, causing the arginine (R) at amino acid position 83 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001834872 SCV002094145 uncertain significance Zellweger spectrum disorders 2020-04-25 no assertion criteria provided clinical testing

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