ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.371G>A (p.Gly124Glu)

gnomAD frequency: 0.00001  dbSNP: rs1169193497
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882106 SCV002163697 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-10-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1392132). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 124 of the PEX10 protein (p.Gly124Glu). 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 tolerated. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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