ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.782C>G (p.Ser261Cys)

gnomAD frequency: 0.00002  dbSNP: rs1208669638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041419 SCV001205034 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 281 of the PEX10 protein (p.Ser281Cys). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 839621). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. RCV001272086 SCV001453723 uncertain significance Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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