ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met) (rs373770404)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700880 SCV000829656 uncertain significance Adams-Oliver syndrome 5 2019-11-14 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769608 SCV000901005 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-26 criteria provided, single submitter clinical testing

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