ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002454841 SCV002615343 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-05-24 criteria provided, single submitter clinical testing The p.E1183D variant (also known as c.3549G>T), located in coding exon 22 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 3549. The glutamic acid at codon 1183 is replaced by aspartic acid, 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.
Invitae RCV003099564 SCV002947086 benign Adams-Oliver syndrome 5 2022-10-15 criteria provided, single submitter clinical testing

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