ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1982G>C (p.Gly661Ala)

dbSNP: rs2133362468
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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 RCV003172281 SCV003861531 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-15 criteria provided, single submitter clinical testing The p.G661A variant (also known as c.1982G>C), located in coding exon 12 of the NOTCH1 gene, results from a G to C substitution at nucleotide position 1982. The glycine at codon 661 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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