ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1535del (p.Asn512fs)

dbSNP: rs763475304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008817 SCV001168618 pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 94 amino acids are replaced with 1 different amino acid, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); This variant is associated with the following publications: (PMID: 30850729, 23242139, 26823519, 29758292, 24262437)
Undiagnosed Diseases Network, NIH RCV001310230 SCV001499843 pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2018-07-26 criteria provided, single submitter clinical testing
Mendelics RCV002249629 SCV002518895 pathogenic Familial cancer of breast 2022-05-04 criteria provided, single submitter clinical testing

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