ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.912+8G>A

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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 RCV002672219 SCV002994594 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-03-15 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the PEX10 gene. It does not directly change the encoded amino acid sequence of the PEX10 protein. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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