ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile)

gnomAD frequency: 0.00009  dbSNP: rs774068657
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311137 SCV000320201 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-18 criteria provided, single submitter clinical testing The p.S1551I variant (also known as c.4652G>T), located in coding exon 26 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 4652. The serine at codon 1551 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001365748 SCV001562028 benign Adams-Oliver syndrome 5 2022-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001365748 SCV002553403 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270178 SCV002553405 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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