ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)

dbSNP: rs61752102
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000502221 SCV000590930 likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2020-05-03 criteria provided, single submitter clinical testing
Counsyl RCV000670939 SCV000795861 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-11-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403180 SCV004122725 pathogenic Peroxisome biogenesis disorder 2023-10-11 criteria provided, single submitter clinical testing Variant summary: PEX12 c.533_535delAAC (p.Gln178del) results in an in-frame deletion that is predicted to remove 1 amino acids from the encoded protein. The variant allele was found at a frequency of 1.6e-05 in 251488 control chromosomes. c.533_535delAAC has been reported in the literature in multiple individuals affected with Zellweger Syndrome (Alshenaifi_2019, Yik_2009, Steinberg_2004, Ebberink_2010). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 30561787, 21031596, 15542397, 19105186). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV000502221 SCV004201452 likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2024-03-29 criteria provided, single submitter clinical testing

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