ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr)

dbSNP: rs2046897026
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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 RCV001288523 SCV001475688 likely pathogenic not provided 2022-07-05 criteria provided, single submitter clinical testing At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic, suggesting this variant may also cause disease. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant alters a critical location within the protein, and is expected to severely affect function and cause disease. Greater than 90% of pathogenic variants identified in NOTCH3 involve the gain or loss of a cysteine residue within the epidermal growth factor (EGF)-like repeat domain.
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV002512149 SCV002822866 pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2022-11-25 criteria provided, single submitter clinical testing

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