ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1055326153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550878 SCV000659480 benign Adams-Oliver syndrome 5 2023-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159950 SCV003861504 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-11-17 criteria provided, single submitter clinical testing The p.C2168Y variant (also known as c.6503G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6503. The cysteine at codon 2168 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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