ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp) (rs766644919)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219827 SCV001391785 uncertain significance Adams-Oliver syndrome 5 2019-06-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1211 of the NOTCH1 protein (p.Arg1211Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs766644919, ExAC 0.005%). This variant has been observed in an individual affected with a thoracic aortic aneurysm and dissection (PMID: 29907982). 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 C65"). 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.
GenomeConnect, ClinGen RCV000845088 SCV000986938 not provided Aortic valve disorder; Adams-Oliver syndrome 5 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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