ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466955 SCV002761942 uncertain significance Myofibromatosis, infantile, 2 2022-01-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002473389 SCV002771746 pathogenic not provided 2021-08-13 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 tested at Athena Diagnostics with clinical features associated with this gene. Computational tools yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites. 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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