ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3694G>T (p.Val1232Leu)

dbSNP: rs750169914
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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 RCV002346748 SCV002621483 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-01 criteria provided, single submitter clinical testing The p.V1232L variant (also known as c.3694G>T), located in coding exon 23 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 3694. The valine at codon 1232 is replaced by leucine, 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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