ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2922del (p.Leu974fs) (rs762324548)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411605 SCV000487468 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2015-12-22 criteria provided, single submitter clinical testing
Counsyl RCV000409154 SCV000487469 likely pathogenic Peroxisome biogenesis disorder 1B 2015-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000478887 SCV000572331 pathogenic not provided 2017-01-16 criteria provided, single submitter clinical testing The c.2922delA variant in the PEX1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2922delA variant causes a frameshift starting with codon Leucine 974, changes this amino acid to a Phenylalanine residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Leu974PhefsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2922delA 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 benign variant in these populations. We interpret c.2922delA as a pathogenic variant.

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