ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3899C>T (p.Thr1300Ile)

dbSNP: rs2133343138
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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 RCV002366379 SCV002624380 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-15 criteria provided, single submitter clinical testing The p.T1300I variant (also known as c.3899C>T), located in coding exon 23 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 3899. The threonine at codon 1300 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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