ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.640C>T (p.Arg214Cys)

gnomAD frequency: 0.00005  dbSNP: rs536486149
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514876 SCV000611011 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing
Invitae RCV002524997 SCV003453289 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-09-01 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 234 of the PEX10 protein (p.Arg234Cys). This variant is present in population databases (rs536486149, gnomAD 0.02%). 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: 446046). 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.
Ambry Genetics RCV002527437 SCV003561184 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.700C>T (p.R234C) alteration is located in exon 4 (coding exon 4) of the PEX10 gene. This alteration results from a C to T substitution at nucleotide position 700, causing the arginine (R) at amino acid position 234 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272160 SCV001453855 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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