ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.116C>T (p.Ala39Val)

gnomAD frequency: 0.00024  dbSNP: rs149421567
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727633 SCV000854916 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV001862130 SCV002199967 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 39 of the PEX10 protein (p.Ala39Val). This variant is present in population databases (rs149421567, gnomAD 0.07%). 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: 592470). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000727633 SCV002541841 uncertain significance not provided 2021-04-27 criteria provided, single submitter clinical testing

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