ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.922C>T (p.Pro308Ser)

gnomAD frequency: 0.00001  dbSNP: rs1402121158
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001997909 SCV002249221 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 328 of the PEX10 protein (p.Pro328Ser). This variant is not present in population databases (gnomAD no frequency). 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: 1464238). 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.

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