ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3462C>G (p.Cys1154Trp)

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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 RCV005383117 SCV006039559 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-03-14 criteria provided, single submitter clinical testing The p.C1154W variant (also known as c.3462C>G), located in coding exon 21 of the NOTCH1 gene, results from a C to G substitution at nucleotide position 3462. The cysteine at codon 1154 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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