ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr)

dbSNP: rs1568362252
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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 RCV000710997 SCV000841313 pathogenic not provided 2021-04-15 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. 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 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003549 SCV001161893 likely pathogenic Stroke disorder no assertion criteria provided research

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