ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4867G>C (p.Glu1623Gln)

dbSNP: rs187112709
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002340380 SCV002634920 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-16 criteria provided, single submitter clinical testing The p.E1623Q variant (also known as c.4867G>C), located in coding exon 26 of the NOTCH1 gene, results from a G to C substitution at nucleotide position 4867. The glutamic acid at codon 1623 is replaced by glutamine, an amino acid with highly similar 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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