ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.430T>C (p.Cys144Arg)

dbSNP: rs2046934287
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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 RCV001289350 SCV001477087 likely pathogenic not provided 2020-01-15 criteria provided, single submitter clinical testing The variant disrupts a cysteine residue in an EGF-like repeat domain, which is important for the structure of this protein. Therefore it is expected to severely affect the function of the protein. Not found in the total gnomAD dataset, and the data is high quality. Other pathogenic or likely pathogenic variants affect the same amino acid.

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