ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1531T>C (p.Cys511Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004791078 SCV005413344 likely pathogenic not provided 2024-02-14 criteria provided, single submitter clinical testing PP3, PP4, PM1, PM2_moderate, PM5
Athena Diagnostics RCV004791078 SCV005620733 pathogenic not provided 2024-08-20 criteria provided, single submitter clinical testing This variant alters a critical location within the protein, and is expected to severely affect function and cause disease. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) This variant has been identified in at least one individual with clinical features associated with CADASIL. 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).

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