ClinVar Miner

Submissions for variant NM_000942.5(PPIB):c.414_417dup (p.Met140fs)

dbSNP: rs1555496051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485763 SCV000573083 likely pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing The c.414_417dupGAGC variant in the PPIB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.414_417dupGAGC variant causes a frameshift starting with codon Methionine 140, changes this amino acid to a Glutamic Acid residue, and creates a premature Stop codon at position 54 of the new reading frame, denoted p.Met140GlufsX54. This variant is predicted to cause loss of normal protein function through protein truncation. The c.414_417dupGAGC 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.414_417dupGAGC as a likely pathogenic variant.

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