ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)

dbSNP: rs758997426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002051888 SCV002318780 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2022-03-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.831>=0.6). A missense variant is a common mechanism . Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Athena Diagnostics Inc RCV000722374 SCV002771737 pathogenic not provided 2022-06-23 criteria provided, single submitter clinical testing This variant has been identified in at least one individual with clinical features associated with CADASIL. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). 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.
Gharavi Laboratory, Columbia University RCV000722374 SCV000853505 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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