ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) (rs398123302)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078564 SCV000110420 pathogenic not provided 2013-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000078564 SCV000330067 pathogenic not provided 2015-12-17 criteria provided, single submitter clinical testing The c.894delC pathogenic variant in the PEX12 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant replaces the Methionine residue at position 300 with a premature Stop codon, denoted p.Met300Ter. This variant is predicted to cause loss of normal protein function through protein truncation. The c.894delC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common variant in these populations. We interpret c.894delC as a pathogenic variant.
Counsyl RCV000669619 SCV000794390 likely pathogenic Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 2017-10-25 criteria provided, single submitter clinical testing

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