ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6860G>A (p.Gly2287Asp)

gnomAD frequency: 0.00001  dbSNP: rs1162402352
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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 RCV002378001 SCV002667595 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-04-09 criteria provided, single submitter clinical testing The p.G2287D variant (also known as c.6860G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6860. The glycine at codon 2287 is replaced by aspartic acid, an amino acid with 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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