ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.624dup (p.Pro209fs) (rs1438831421)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599473 SCV000710444 likely pathogenic not provided 2018-01-16 criteria provided, single submitter clinical testing The c.624dupA variant in the PEX2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.624dupA variant causes a frameshift starting with codon Proline 209, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 24 of the new reading frame, denoted p.Pro209ThrfsX24. This variant is predicted to cause loss of normal protein function through protein truncation. The c.624dupA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.624dupA as a likely pathogenic variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000599473 SCV000858939 pathogenic not provided 2018-01-03 criteria provided, single submitter clinical testing

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