ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7159C>T (p.Pro2387Ser)

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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 RCV005383113 SCV006039549 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-02-27 criteria provided, single submitter clinical testing The p.P2387S variant (also known as c.7159C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 7159. The proline at codon 2387 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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