ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6968A>G (p.Tyr2323Cys)

gnomAD frequency: 0.00001  dbSNP: rs779811889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001988736 SCV002285334 benign Adams-Oliver syndrome 5 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV005374993 SCV006039547 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-02-27 criteria provided, single submitter clinical testing The p.Y2323C variant (also known as c.6968A>G), located in coding exon 34 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 6968. The tyrosine at codon 2323 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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