ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter)

gnomAD frequency: 0.00001  dbSNP: rs1348892740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624179 SCV000742209 pathogenic Inborn genetic diseases 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV003228963 SCV003926344 pathogenic not provided 2022-11-18 criteria provided, single submitter clinical testing Reported as a de novo variant in a proband referred for exome sequencing; however, detailed clinical information was not provided (Powis et al., 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29565416)
CeGaT Center for Human Genetics Tuebingen RCV003228963 SCV004042381 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing NOTCH1: PVS1, PM2

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