ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu)

gnomAD frequency: 0.00001  dbSNP: rs1243453790
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770622 SCV000902073 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000801209 SCV000940975 uncertain significance Adams-Oliver syndrome 5 2018-11-30 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with NOTCH1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces serine with leucine at codon 1651 of the NOTCH1 protein (p.Ser1651Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine.
Genome-Nilou Lab RCV000801209 SCV002553384 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271031 SCV002553385 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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