ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His)

dbSNP: rs878855028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232476 SCV000290289 likely benign Adams-Oliver syndrome 5 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347908 SCV002654078 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-06-25 criteria provided, single submitter clinical testing The p.R1854H variant (also known as c.5561G>A), located in coding exon 30 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5561. The arginine at codon 1854 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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