ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.299_300delinsAT (p.Ala100Asp)

dbSNP: rs2100429705
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001863977 SCV002126049 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-05-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 100 of the PEX10 protein (p.Ala100Asp). This variant is present in population databases (no rsID available, gnomAD 0.04%). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.

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