ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1384C>T (p.Gln462Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290381 SCV002580506 likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2021-10-27 criteria provided, single submitter clinical testing
GeneDx RCV004719251 SCV005325118 likely pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing Identified as mosaic in individuals with either breast or ovarian cancer following chemotherapy (Pharoah et al., 2016; Ruark et al., 2013); Nonsense variant predicted to result in protein truncation, as the last 144 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26823519, 23242139)

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