ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4457del (p.Thr1486fs)

dbSNP: rs1064793660
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481951 SCV000566710 pathogenic not provided 2015-06-05 criteria provided, single submitter clinical testing The c.4457delC deletion in the NOTCH2 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.4457delC deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4457delC deletion was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. We interpret c.4457delC as a pathogenic variant.

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