ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.247del (p.Arg83fs)

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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 RCV003538142 SCV004330651 pathogenic Peroxisome biogenesis disorder, complementation group 7 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg83Glyfs*14) in the PEX10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596). 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. For these reasons, this variant has been classified as Pathogenic.

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