ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)

dbSNP: rs369965266
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410037 SCV000487627 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2016-10-21 criteria provided, single submitter clinical testing
Counsyl RCV000411504 SCV000487628 likely pathogenic Peroxisome biogenesis disorder 6B 2016-10-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001290646 SCV001478768 likely pathogenic Peroxisome biogenesis disorder 2022-04-21 criteria provided, single submitter clinical testing Variant summary: PEX10 c.352C>T (p.Gln118X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 247864 control chromosomes (gnomAD). c.352C>T has been reported in the literature in an individual (homozygous) affected with Zellweger Syndrome Spectrum disorder (Ebberink_2010). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cite the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV002523888 SCV003522539 pathogenic Peroxisome biogenesis disorder, complementation group 7 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln118*) 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 premature translational stop signal has been observed in individual(s) with Zellweger spectrum disorder (PMID: 21031596). ClinVar contains an entry for this variant (Variation ID: 371748). For these reasons, this variant has been classified as Pathogenic.

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