ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)

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Total submissions: 2
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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 RCV000769608 SCV000901005 uncertain significance Thoracic aortic aneurysm and aortic dissection 2017-09-26 criteria provided, single submitter clinical testing
Invitae RCV000700880 SCV000829656 uncertain significance Adams-Oliver syndrome 5 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 413 of the NOTCH1 protein (p.Val413Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs373770404, ExAC 0.02%). This variant has not been reported in the literature in individuals with NOTCH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 578001). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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