ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.229C>T (p.Gln77Ter)

gnomAD frequency: 0.00001  dbSNP: rs1568662343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760825 SCV000890720 likely pathogenic not provided 2018-11-02 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the PNKP gene. The Q77X nonsense variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q77X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q77X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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