ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4822C>T (p.Arg1608Cys)

gnomAD frequency: 0.00003  dbSNP: rs775109231
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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 RCV002338032 SCV002635054 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-13 criteria provided, single submitter clinical testing The p.R1608C variant (also known as c.4822C>T), located in coding exon 26 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 4822. The arginine at codon 1608 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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