ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7220G>C (p.Ser2407Thr)

dbSNP: rs2133315934
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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 RCV004522156 SCV005027351 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-01-06 criteria provided, single submitter clinical testing The p.S2407T variant (also known as c.7220G>C), located in coding exon 34 of the NOTCH1 gene, results from a G to C substitution at nucleotide position 7220. The serine at codon 2407 is replaced by threonine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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