ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys)

gnomAD frequency: 0.00001  dbSNP: rs1202763005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990178 SCV001141026 pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002473161 SCV002771719 pathogenic not provided 2022-07-20 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with CADASIL. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002473161 SCV005413342 likely pathogenic not provided 2023-11-15 criteria provided, single submitter clinical testing PP2, PP4, PM1, PM2

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