ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.671G>A (p.Cys224Tyr)

dbSNP: rs1555729451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518606 SCV000614328 pathogenic not provided 2023-03-29 criteria provided, single submitter clinical testing This variant has been identified in multiple unrelated individuals with CADASIL. This variant alters a critical location within the protein, and is expected to severely affect function and cause disease. Greater than 90% of NOTCH3 pathogenic variants associated with CADASIL involve the gain or loss of a cysteine residue within the epidermal growth factor (EGF)-like repeat domain (PMID: 32457593, 20301673).
GenomeConnect - CureCADASIL RCV001089754 SCV001245242 not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 06-21-2005 by Lab or GTR ID 1012. GenomeConnect-CureCADASIL assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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