ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp)

dbSNP: rs756642176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315129 SCV000739497 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-08-30 criteria provided, single submitter clinical testing The p.R780W variant (also known as c.2338C>T), located in coding exon 14 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2338. The arginine at codon 780 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002531843 SCV003292232 benign Adams-Oliver syndrome 5 2023-10-03 criteria provided, single submitter clinical testing

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