ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)

dbSNP: rs41309764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781254 SCV002018344 pathogenic not provided 2019-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851821 SCV002247240 pathogenic Adams-Oliver syndrome 5 2021-09-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 12476). This variant is also known as R1108X. This premature translational stop signal has been observed in individual(s) with NOTCH1-related conditions (PMID: 16025100, 23798201, 31654484). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1107*) in the NOTCH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NOTCH1 are known to be pathogenic (PMID: 16025100, 21457232, 25132448, 25963545).
GeneDx RCV001781254 SCV005201606 pathogenic not provided 2023-11-15 criteria provided, single submitter clinical testing 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: 23798201, 34065301, 31654484, 35947102, 16025100)
OMIM RCV000013294 SCV000033541 pathogenic Aortic valve disease 1 2005-09-08 no assertion criteria provided literature only

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