ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter)

dbSNP: rs1057524700
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440479 SCV000536262 pathogenic not provided 2023-03-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation as the last 183 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Mendelics RCV002248662 SCV002518894 pathogenic Familial cancer of breast 2022-05-04 criteria provided, single submitter clinical testing

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