ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp)

gnomAD frequency: 0.00001  dbSNP: rs757003332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044587 SCV001208392 benign Adams-Oliver syndrome 5 2023-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363592 SCV002659247 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-08-10 criteria provided, single submitter clinical testing The p.R217W variant (also known as c.649C>T), located in coding exon 4 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 649. The arginine at codon 217 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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