ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1451G>A (p.Cys484Tyr)

dbSNP: rs1313319587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710991 SCV000841307 pathogenic not provided 2022-03-28 criteria provided, single submitter clinical testing This variant has been identified in at least one individual with clinical features associated with this gene. This variant was not 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.

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