ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1262C>G (p.Ser421Ter)

dbSNP: rs2031551111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266823 SCV001445003 likely pathogenic Inborn genetic diseases 2017-12-04 criteria provided, single submitter clinical testing
GeneDx RCV002509645 SCV002819086 pathogenic not provided 2023-01-06 criteria provided, single submitter clinical testing Identified in an individual from a cohort with autism spectrum disorder, intellectual disability, and/or developmental delay (Stessman et al., 2017); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 185 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28191889)

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