ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln)

gnomAD frequency: 0.00001  dbSNP: rs750318685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551137 SCV000659457 likely benign Adams-Oliver syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350402 SCV002644235 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-12-19 criteria provided, single submitter clinical testing The p.R1761Q variant (also known as c.5282G>A), located in coding exon 28 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5282. The arginine at codon 1761 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well 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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