ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys)

gnomAD frequency: 0.00003  dbSNP: rs1163673587
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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 RCV000697430 SCV000826038 benign Adams-Oliver syndrome 5 2024-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163217 SCV003896708 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-18 criteria provided, single submitter clinical testing The p.E2254K variant (also known as c.6760G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6760. The glutamic acid at codon 2254 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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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