ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu)

dbSNP: rs368011392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655227 SCV000777157 likely benign Adams-Oliver syndrome 5 2024-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424554 SCV002741275 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-08 criteria provided, single submitter clinical testing The p.R879L variant (also known as c.2636G>T), located in coding exon 17 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 2636. The arginine at codon 879 is replaced by leucine, 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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