ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1545C>G (p.Tyr515Ter)

dbSNP: rs760131892
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188464 SCV000242078 likely pathogenic not provided 2021-11-10 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 7 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31707899, 31110700, 29498415)

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