ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)

dbSNP: rs61751544
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303531 SCV001492779 benign Adams-Oliver syndrome 5 2023-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001536208 SCV001752933 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome-Nilou Lab RCV001303531 SCV002553483 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271211 SCV002553484 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451682 SCV002614110 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-23 criteria provided, single submitter clinical testing The p.Q1193H variant (also known as c.3579G>T), located in coding exon 22 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 3579. The glutamine at codon 1193 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, histidine is the reference amino acid in other 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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