ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)

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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 RCV002475327 SCV002771751 pathogenic not provided 2021-10-13 criteria provided, single submitter clinical testing 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 this gene. 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.
CeGaT Center for Human Genetics Tuebingen RCV002475327 SCV004140308 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing NOTCH3: PP2

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