ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306503 SCV002602530 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2022-01-15 criteria provided, single submitter clinical testing NM_153818.1(PEX10):c.542G>A(W181*) is expected to be pathogenic in the context of peroxisome biogenesis disorder type 6. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PEX10, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp RCV003534855 SCV004305725 pathogenic Peroxisome biogenesis disorder, complementation group 7 2023-07-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp181*) 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 present in population databases (rs749637005, gnomAD 0.003%). 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: 1723948).

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