ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3964T>C (p.Cys1322Arg)

dbSNP: rs2133342565
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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 RCV004522128 SCV005027181 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-10-20 criteria provided, single submitter clinical testing The p.C1322R variant (also known as c.3964T>C), located in coding exon 24 of the NOTCH1 gene, results from a T to C substitution at nucleotide position 3964. The cysteine at codon 1322 is replaced by arginine, an amino acid with highly dissimilar 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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