ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.29A>C (p.Glu10Ala)

gnomAD frequency: 0.00001  dbSNP: rs1367685379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001319625 SCV001510380 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 10 of the PEX10 protein (p.Glu10Ala). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 1020093). 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.
Natera, Inc. RCV001830331 SCV002094148 uncertain significance Zellweger spectrum disorders 2021-03-09 no assertion criteria provided clinical testing

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