ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2762C>T (p.Ser921Phe)

gnomAD frequency: 0.00001  dbSNP: rs1470997215
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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 RCV002439515 SCV002752035 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-05-27 criteria provided, single submitter clinical testing The p.S921F variant (also known as c.2762C>T), located in coding exon 18 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2762. The serine at codon 921 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and phenylalanine is the reference amino acid in other 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.

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