ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.128_129delinsAT (p.Cys43Tyr)

dbSNP: rs2512672832
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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 RCV002475321 SCV002771743 pathogenic not provided 2022-06-06 criteria provided, single submitter clinical testing This variant has been identified in at least one individual with CADASIL. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant results in the same amino acid change as c.128G>A, which composes part of this deletion insertion, and is also classified as pathogenic when observed alone. Additionally, one other missense variant affects this codon and is classified as pathogenic (c.128G>T; p.Cys43Phe). 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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