ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.725G>A (p.Arg242Gln)

gnomAD frequency: 0.00006  dbSNP: rs142257121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239316 SCV001412185 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 262 of the PEX10 protein (p.Arg262Gln). This variant is present in population databases (rs142257121, gnomAD 0.04%). 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: 964978). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.
Genome-Nilou Lab RCV001578801 SCV001806111 uncertain significance Peroxisome biogenesis disorder 6A (Zellweger) 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578802 SCV001806112 uncertain significance Peroxisome biogenesis disorder 6B 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836201 SCV002094112 uncertain significance Zellweger spectrum disorders 2020-02-15 no assertion criteria provided clinical testing

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