ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.338del (p.Leu113fs)

dbSNP: rs878853044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224922 SCV000281066 likely pathogenic not provided 2016-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000799781 SCV000939460 pathogenic Peroxisome biogenesis disorder, complementation group 7 2024-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu113Argfs*40) 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. ClinVar contains an entry for this variant (Variation ID: 235465). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475051 SCV004201387 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2023-10-11 criteria provided, single submitter clinical testing

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