ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5219C>A (p.Ala1740Glu)

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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 RCV004650070 SCV005142171 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-03-28 criteria provided, single submitter clinical testing The p.A1740E variant (also known as c.5219C>A), located in coding exon 28 of the NOTCH1 gene, results from a C to A substitution at nucleotide position 5219. The alanine at codon 1740 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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