ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6691C>G (p.Leu2231Val)

dbSNP: rs2540421841
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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 RCV002367078 SCV002665913 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-07-14 criteria provided, single submitter clinical testing The p.L2231V variant (also known as c.6691C>G), located in coding exon 34 of the NOTCH1 gene, results from a C to G substitution at nucleotide position 6691. The leucine at codon 2231 is replaced by valine, 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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