ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3372C>G (p.Asp1124Glu)

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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 RCV005383110 SCV006039527 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-01-31 criteria provided, single submitter clinical testing The p.D1124E variant (also known as c.3372C>G), located in coding exon 21 of the NOTCH1 gene, results from a C to G substitution at nucleotide position 3372. The aspartic acid at codon 1124 is replaced by glutamic 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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