ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3080C>T (p.Ser1027Leu)

dbSNP: rs2540444329
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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 RCV002319881 SCV002606825 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-08-31 criteria provided, single submitter clinical testing The p.S1027L variant (also known as c.3080C>T), located in coding exon 19 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 3080. The serine at codon 1027 is replaced by leucine, an amino acid with 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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