ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4991G>C (p.Arg1664Thr)

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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 RCV004821504 SCV005458440 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-11-23 criteria provided, single submitter clinical testing The p.R1664T variant (also known as c.4991G>C), located in coding exon 26 of the NOTCH1 gene, results from a G to C substitution at nucleotide position 4991. The arginine at codon 1664 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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