ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter)

dbSNP: rs935487877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412940 SCV000490666 pathogenic not provided 2016-01-21 criteria provided, single submitter clinical testing The Y2211X pathogenic variant in the NOTCH3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The Y2211X variant was not observed in approximately 5,970 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Y2211X as a pathogenic variant.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989527 SCV004807424 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2024-03-26 criteria provided, single submitter clinical testing

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