ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3700C>G (p.Arg1234Gly)

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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 RCV005377124 SCV006039494 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-01-17 criteria provided, single submitter clinical testing The p.R1234G variant (also known as c.3700C>G), located in coding exon 23 of the NOTCH1 gene, results from a C to G substitution at nucleotide position 3700. The arginine at codon 1234 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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