ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His)

dbSNP: rs897872809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788742 SCV000927967 uncertain significance not provided 2018-09-29 criteria provided, single submitter clinical testing
Invitae RCV001345011 SCV001539107 uncertain significance Adams-Oliver syndrome 5 2020-08-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces arginine with histidine at codon 1940 of the NOTCH1 protein (p.Arg1940His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant has not been reported in the literature in individuals with NOTCH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 636804). This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV001345011 SCV002553322 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271038 SCV002553323 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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