ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2461T>C (p.Tyr821His)

dbSNP: rs2540452046
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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 RCV003341827 SCV004051322 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-09-06 criteria provided, single submitter clinical testing The p.Y821H variant (also known as c.2461T>C), located in coding exon 15 of the NOTCH1 gene, results from a T to C substitution at nucleotide position 2461. The tyrosine at codon 821 is replaced by histidine, 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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