ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.31G>A (p.Val11Met)

dbSNP: rs1643274878
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202677 SCV001373800 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 934315). 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 11 of the PEX10 protein (p.Val11Met).

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