ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) (rs763902589)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000576306 SCV000678229 uncertain significance Aortic valve disorder; Adams-Oliver syndrome 5 2017-08-01 criteria provided, single submitter clinical testing NOTCH1 NM_017617.4 exon34 p.His2500Asp (c.7498C>G): This variant has not been reported in the literature but is present in 9/121248 European chromosomes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs763902589). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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