ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4780C>T (p.Arg1594Trp)

gnomAD frequency: 0.00001  dbSNP: rs1213244424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003749732 SCV004553542 likely benign Adams-Oliver syndrome 5 2024-04-08 criteria provided, single submitter clinical testing
GeneDx RCV004784175 SCV005396478 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing Identified in a patient with pulmonary arterial hypertension and an atrial septal defect in published literature; this patient also harbored an additional cardiogenetic variant (PMID: 30029678); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30029678)

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