ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1669G>T (p.Gly557Cys)

dbSNP: rs1317994194
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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 RCV001288525 SCV001475691 pathogenic not provided 2020-02-20 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. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity.

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