ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.226T>A (p.Cys76Ser)

dbSNP: rs1555729610
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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 Inc RCV000710996 SCV000841312 pathogenic not provided 2022-04-13 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). 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.

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