ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5612G>A (p.Cys1871Tyr)

dbSNP: rs2133328579
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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 RCV002344969 SCV002648387 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-07-19 criteria provided, single submitter clinical testing The p.C1871Y variant (also known as c.5612G>A), located in coding exon 30 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5612. The cysteine at codon 1871 is replaced by tyrosine, an amino acid with highly dissimilar 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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