ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp)

gnomAD frequency: 0.00005  dbSNP: rs780485807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062781 SCV001227602 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 183 of the PEX10 protein (p.Tyr183Asp). This variant is present in population databases (rs780485807, 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: 857163). 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 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. RCV001833615 SCV002094125 uncertain significance Zellweger spectrum disorders 2020-02-21 no assertion criteria provided clinical testing

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