ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4982G>A (p.Arg1661Gln)

gnomAD frequency: 0.00001  dbSNP: rs1163223024
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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 RCV002594021 SCV002952581 benign Adams-Oliver syndrome 5 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV004779358 SCV005392303 uncertain significance not provided 2024-04-23 criteria provided, single submitter clinical testing 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; Observed in a patient with non-obstructive azoospermia; this individual also harbored variants in other genes and although full clinical information was not specified, this individual was not reported to have other features of NOTCH1-related disorder (PMID: 37540677); This variant is associated with the following publications: (PMID: 37540677)

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