ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln)

gnomAD frequency: 0.00001  dbSNP: rs768543030
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001920938 SCV002193909 benign Adams-Oliver syndrome 5 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359415 SCV002655863 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-03-07 criteria provided, single submitter clinical testing The p.R2087Q variant (also known as c.6260G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6260. The arginine at codon 2087 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV002491881 SCV002775855 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-10-15 criteria provided, single submitter clinical testing
GeneDx RCV003442959 SCV004170278 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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